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Phenotypic Abnormality (PA): Abnormality of limbs
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Phenotype Ontology
Like Gene Ontology (GO), phenotypy ontology classifies and organizes gene-mutant/null phenotypic information from the very general at the top to more specific terms in the directed acyclic graph (DAG) by viewing an individual term as a node and its relations to parental terms (allowing for multiple parents) as directed edges. To navigate this hierarchy, we display all parental phenotypic terms to the current phenotypic term of interest ordered by their shortest distances to the current term. Also, only direct children phenotypic terms of the current phenotypic term are listed. Phenotype ontologies we have incorporated are as follows:
- Disease Ontology (DO) Ontology (DO) DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI thesaurus, SNOMED and OMIM.
- Human Phenotype (HP) Ontology (HP) HP captures phenotypic abnormalities that are described in OMIM, along with the corresponding disease-causing genes. It includes three complementary biological concepts: Mode_of_Inheritance (MI), ONset_and_clinical_course (ON), and Phenotypic_Abnormality (PA).
- Mouse Phenotype (MP) Ontology (MP) MP describes phenotypes of the mouse after a specific gene is genetically disrupted. Using it, Mouse Genome Informatics (MGI) provides high-coverate gene-level phenotypes for the mouse.
- Worm Phenotype (WP) Ontology (WP) WP classifies and organizes phenotype descriptions for C. elegans and other nematodes. Using it, WormBase provides primary resource for phenotype annotations for C. elegans.
- Yeast Phenotype (YP) Ontology (YP) Based on YP which is the major contributor to the Ascomycete phenotype ontology, Saccharomyces Genome Database (SGD) provides single mutant phenotypes for every gene in the yeast genome.
- Fly Phenotype (FP) Ontology (FP) FP refers to FlyBase controlled vocabulary. Specifically, a structured controlled vocabulary is used for the annotation of alleles (for their mutagen etc) in FlyBase.
- Fly Anatomy (FA) Ontology (FA) FA is a structured controlled vocabulary of the anatomy of Drosophila melanogaster, used for the description of phenotypes and where a gene is expressed.
- Zebrafish Anatomy (ZA) Ontology (ZA) ZA displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
- Xenopus Anatomy (XA) Ontology (XA) XA represents the lineage of tissues and the timing of development for frogs (Xenopus laevis and Xenopus tropicalis). It is used to annotate Xenopus gene expression patterns and mutant and morphant phenotypes.
- Arabidopsis Plant Ontology (AP) Ontology (AP) As a major contributor to Plant Ontology which describes plant anatomical and morphological structures (AN) and growth and developmental stages (DE), the Arabidopsis Information Resource (TAIR) provides arabidopsis plant ontology annotations for the model higher plant Arabidopsis thaliana.
- Enzyme Commission (EC) Ontology (EC) Each enzyme is allocated a four-digit EC number, the first three digits of which define the reaction catalysed and the fourth of which is a unique identifier (serial number). Each enzyme is also assigned a systematic name that uniquely defines the reaction catalysed.
- DrugBank ATC (DB) Ontology (DB) In the Anatomical Therapeutic Chemical (ATC) classification system, drugs are classified in groups at five different levels according to the organ or system (1st level, anatomical main group) on which they act and their therapeutic (2nd level, therapeutic subgroup), pharmacological (3rd level, pharmacological subgroup) and chemical properties (4th level, chemical subgroup; 5th level, chemical substance). Only drugs in DrugBank are considered.
- UniProtKB KeyWords (KW) Ontology (KW) Keywords in UniProtKB are controlled vocabulary, providing a summary of the entry content and are used to index UniProtKB/Swiss-Prot entries based on 10 categories (the category "Technical term" being excluded here). Each keyword is attributed manually to UniProtKB/Swiss-Prot entries and automatically to UniProtKB/TrEMBL entries (according to specific annotation rules).
- UniProtKB UniPathway (UP) Ontology (UP) UP is a fully manually curated resource for the representation and annotation of metabolic pathways, being used as controlled vocabulary for pathway annotation in UniProtKB.
Structural Domain Phenotype Ontology and its Annotations
Structural Classification of Proteins (SCOP) classifies evolutionary-related domains into Superfamily level and Family level. Using the phenotype ontologies above, we have generated the domain-centric phenotype annotations, and further identified those phenotype terms which are the most informative to annotate SCOP domains. Promisingly, domain-centric phenotypic annotations can serve as an alternative starting point to explore genotype-phenotype relationships. We provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Structural Domain Disease Ontology (DO) Ontology (SDDO) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DO.txt, and the corresponding ontology:SDDO.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Human Phenotype (HP) Ontology (SDHP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2HP.txt, and the corresponding ontology:SDHP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Mouse Phenotype (MP) Ontology (SDMP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2MP.txt, and the corresponding ontology:SDMP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Worm Phenotype (WP) Ontology (SDWP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2WP.txt, and the corresponding ontology:SDWP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Yeast Phenotype (YP) Ontology (SDYP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2YP.txt, and the corresponding ontology:SDYP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Phenotype (FP) Ontology (SDFP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FP.txt, and the corresponding ontology:SDFP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Fly Anatomy (FA) Ontology (SDFA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FA.txt, and the corresponding ontology:SDFA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Zebrafish Anatomy (ZA) Ontology (SDZA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2ZA.txt, and the corresponding ontology:SDZA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Xenopus Anatomy (XA) Ontology (SDXA) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2XA.txt, and the corresponding ontology:SDXA.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Arabidopsis Plant Ontology (AP) Ontology (SDAP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2AP.txt, and the corresponding ontology:SDAP.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain Enzyme Commission (EC) Ontology (SDEC) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2EC.txt, and the corresponding ontology:SDEC.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain DrugBank ATC (DB) Ontology (SDDB) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DB.txt, and the corresponding ontology:SDDB.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB KeyWords (KW) Ontology (SDKW) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2KW.txt, and the corresponding ontology:SDKW.txt) and mysql tables (Domain2PO.sql.gz).
- Structural Domain UniProtKB UniPathway (UP) Ontology (SDUP) and its Annotations: For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2UP.txt, and the corresponding ontology:SDUP.txt) and mysql tables (Domain2PO.sql.gz).
Supra-domain Phenotype Ontology and its Annotations
Although domain-centric annotations hold great promise in describing phenotypic nature of independent domains, most domains themselves may not just work alone. In multi-domain proteins, they may be combined together to form distinct domain architectures. The recombination of the existing domains is considered as one of major driving forces for phenotypic diversificaation. As an extension, we have also generated supra-domain phenotype ontology and its annotations. Compared to domain-centric phenotype ontology and annotations (SCOP domains at the Superfamily level and Family level), this version focuses on supra-domains and individual SCOP domains ONLY at the Superfamily level. Besides, in terms of individual superfamilies, their annotations from the domain-centric version may be different from those from supra-domains version. Depending on your focus, the former should be used for the consideration of both the Superfamily level and Family level, otherwise the latter should be used if you are interested in domain combinations. Also, we provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.
- Supra-domain Domain Disease Ontology (DO) Ontology (SPDO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DO.txt, and the corresponding ontology:SPDO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Human Phenotype (HP) Ontology (SPHO) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2HP.txt, and the corresponding ontology:SPHO.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Mouse Phenotype (MP) Ontology (SPMP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2MP.txt, and the corresponding ontology:SPMP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Worm Phenotype (WP) Ontology (SPWP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2WP.txt, and the corresponding ontology:SPWP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Yeast Phenotype (YP) Ontology (SPYP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2YP.txt, and the corresponding ontology:SPYP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Phenotype (FP) Ontology (SPFP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FP.txt, and the corresponding ontology:SPFP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Fly Anatomy (FA) Ontology (SPFA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FA.txt, and the corresponding ontology:SPFA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Zebrafish Anatomy (ZA) Ontology (SPZA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2ZA.txt, and the corresponding ontology:SPZA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Xenopus Anatomy (XA) Ontology (SPXA) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2XA.txt, and the corresponding ontology:SPXA.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Arabidopsis Plant Ontology (AP) Ontology (SPAP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2AP.txt, and the corresponding ontology:SPAP.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain Enzyme Commission (EC) Ontology (SPEC) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2EC.txt, and the corresponding ontology:SPEC.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain DrugBank ATC (DB) Ontology (SPDB) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DB.txt, and the corresponding ontology:SPDB.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB KeyWords (KW) Ontology (SPKW) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2KW.txt, and the corresponding ontology:SPKW.txt) and mysql tables (SP2PO.sql.gz).
- Supra-domain Domain UniProtKB UniPathway (UP) Ontology (SPUP) and its Annotations: For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2UP.txt, and the corresponding ontology:SPUP.txt) and mysql tables (SP2PO.sql.gz).
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Superfamily(show details)
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
Family(show details)
Family domains annotated to this HP term (SDHP level: Least Informative)
Highlighted in gray are those with FDR_all>0.001
SCOP term | FDR (all) | Annotation (direct or inherited) |
CCCH zinc finger | 0 | DIRECT |
Zn-finger domain of Sec23/24 | 0 | DIRECT |
CalX-beta domain | 0 | DIRECT |
Proteasome subunits | 0 | DIRECT |
Myotubularin-like phosphatases | 0 | DIRECT |
Filamin repeat (rod domain) | 0 | DIRECT |
Protein serine/threonine phosphatase | 0 | DIRECT |
C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
Helical domain of Sec23/24 | 0 | DIRECT |
p120GAP domain-like | 0 | DIRECT |
BRK domain-like | 0 | DIRECT |
SWIRM domain | 0 | DIRECT |
Notch domain | 0 | DIRECT |
Smc hinge domain | 0 | DIRECT |
XPF/Rad1/Mus81 nuclease | 0 | DIRECT |
Histone deacetylase, HDAC | 0 | DIRECT |
Regulator of chromosome condensation RCC1 | 0 | DIRECT |
Plakin repeat | 0 | DIRECT |
Hedgehog (development protein), N-terminal signaling domain | 0 | DIRECT |
Exostosin | 0 | DIRECT |
Inositol polyphosphate 5-phosphatase (IPP5) | 0 | DIRECT |
TB module/8-cys domain | 0 | DIRECT |
beta-sandwich domain of Sec23/24 | 0 | DIRECT |
Trunk domain of Sec23/24 | 0 | DIRECT |
Hedgehog C-terminal (Hog) autoprocessing domain | 0 | DIRECT |
Hect, E3 ligase catalytic domain | 0.001174 | INHERITED FROM: Abnormal digit morphology |
Actin/HSP70 | 0.00249 | INHERITED FROM: Abnormality of limb bone || Abnormality of limb bone morphology || Abnormality of finger |
Erythroid transcription factor GATA-1 | 0.01073 | INHERITED FROM: Abnormal digit morphology || Brachydactyly || Clinodactyly of the 5th finger || Finger clinodactyly || Abnormality of the hand || Abnormality of finger |
Myosin rod fragments | 0.0111 | INHERITED FROM: Abnormality of the shoulder girdle musculature || Scapular winging || Hip dislocation || Lower limb muscle weakness |
PHD domain | 0.01428 | INHERITED FROM: Radioulnar synostosis |
Bromodomain | 0.02536 | INHERITED FROM: Abnormal patella morphology || Single transverse palmar crease |
Tetratricopeptide repeat (TPR) | 0.0354 | INHERITED FROM: Postaxial polydactyly |
a tRNA synthase domain | 0.04195 | INHERITED FROM: Limb muscle weakness || Pes cavus |
Clathrin adaptor core protein | 0.04195 | INHERITED FROM: Abnormality of the hip joint || Abnormality of the acetabulum || Acetabular dysplasia |
Neurotransmitter-gated ion-channel transmembrane pore | 0.04798 | INHERITED FROM: Weakness of long finger extensor muscles || Hip flexor weakness || Triceps weakness || Limb-girdle muscle weakness || Hand muscle weakness || Abnormality of the musculature of the hand || Proximal muscle weakness in upper limbs || Weakness of the intrinsic hand muscles || Pelvic girdle muscle weakness || Shoulder girdle muscle weakness |
Nicotinic receptor ligand binding domain-like | 0.04798 | INHERITED FROM: Weakness of long finger extensor muscles || Hip flexor weakness || Triceps weakness || Limb-girdle muscle weakness || Hand muscle weakness || Abnormality of the musculature of the hand || Proximal muscle weakness in upper limbs || Weakness of the intrinsic hand muscles || Pelvic girdle muscle weakness || Shoulder girdle muscle weakness |
Histone lysine methyltransferases | 0.04889 | INHERITED FROM: Talipes || Hip dislocation |
Calponin-homology domain, CH-domain | 0.05021 | INHERITED FROM: Abnormality of the musculature of the lower limbs || Scapular winging || Abnormality of the Achilles tendon |
VWC domain | 0.06576 | INHERITED FROM: Long fingers || Abnormality of the hip joint || Talipes equinovarus || Talipes || Hip dislocation || Slender finger |
Transforming growth factor (TGF)-beta | 0.07124 | INHERITED FROM: Short middle phalanx of finger || Abnormal middle phalanx morphology of the hand || Aplasia/Hypoplasia of the middle phalanges of the hand |
Growth factor receptor domain | 0.0754 | INHERITED FROM: Bowing of the arm |
ZZ domain | 0.0805 | INHERITED FROM: Clinodactyly || Pes planus || Syndactyly |
Insulin-like | 0.0805 | INHERITED FROM: Deviation of the hand or of fingers of the hand || Clinodactyly || Deviation of finger |
Hemopexin-like domain | 0.08065 | INHERITED FROM: Metaphyseal widening || Abnormality of the femoral neck |
Laminin-type module | 0.09657 | INHERITED FROM: Mitten deformity || Palmar hyperhidrosis |
ARID domain | 0.1124 | INHERITED FROM: Coxa valga || Abnormal distal phalanx morphology of finger || Aplasia/Hypoplasia of the 5th toe || Aplasia/Hypoplasia of fingers || Aplasia/Hypoplasia of the phalanges of the 5th toe || Aplasia/hypoplasia involving bones of the hand || Elbow dislocation || Abnormality of the distal phalanges of the toes || Short digit || Abnormal patella morphology || Abnormality of the distal phalanx of the 5th finger || Abnormal palmar dermatoglyphics || Single transverse palmar crease || Abnormality of the femoral neck or head region || Short phalanx of finger || Abnormality of the palmar creases || Absent toe || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Aplasia/hypoplasia involving bones of the lower limbs || Abnormality of the 5th toe || Aplasia/Hypoplasia of the phalanges of the hand || Bilateral single transverse palmar creases || Abnormal 5th finger phalanx morphology || Aplasia/Hypoplasia of the distal phalanges of the hand || Aplasia/hypoplasia involving bones of the upper limbs || Abnormality of the palm || Abnormality of the phalanges of the toes || Aplasia/Hypoplasia involving bones of the feet || Short distal phalanx of finger || Short finger || Abnormal hand morphology || Abnormality of the femoral neck || Abnormality of upper limb joint || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe || Aplasia/Hypoplasia of the distal phalanges of the toes |
Matrix metalloproteases, catalytic domain | 0.129 | INHERITED FROM: Metaphyseal widening |
Tropomyosin | 0.129 | INHERITED FROM: Elbow flexion contracture || Abnormality of the hip joint || Abnormality of the shoulder girdle musculature || Scapular winging || Talipes equinovarus || Hip dislocation || Knee flexion contracture |
Anticodon-binding domain of Class II aaRS | 0.129 | INHERITED FROM: Abnormality of the musculature of the limbs |
MMP N-terminal domain | 0.129 | INHERITED FROM: Metaphyseal widening |
RecA protein-like (ATPase-domain) | 0.1384 | INHERITED FROM: Toe syndactyly || Hypoplasia of the ulna || Aplasia/Hypoplasia of the ulna || Forearm undergrowth || Aplasia/Hypoplasia of the radius || Triangular shaped phalanges of the hand || Abnormal forearm bone morphology || Hip dislocation || Clubbing || Abnormality of thumb phalanx || Triphalangeal thumb || Abnormal morphology of ulna || Clubbing of toes |
Integrin A (or I) domain | 0.1455 | INHERITED FROM: Interphalangeal joint contracture of finger || Finger joint hypermobility || Adducted thumb || Ankle flexion contracture || Pes valgus || Increased laxity of fingers || Increased laxity of ankles || Abnormality of hand joint mobility || Long toe || Abnormal phalangeal joint morphology of the hand || Flexion contracture of finger |
Spectrin repeat | 0.1461 | INHERITED FROM: Abnormality of the Achilles tendon || Achilles tendon contracture |
Classic zinc finger, C2H2 | 0.1463 | INHERITED FROM: Hand polydactyly || Duplication of bones involving the upper extremities |
SNARE fusion complex | 0.1879 | INHERITED FROM: Abnormality of the hip joint || Hip dislocation |
Fibronectin type II module | 0.1879 | INHERITED FROM: Abnormality of the metaphysis |
TSP-1 type 1 repeat | 0.1906 | INHERITED FROM: Abnormality of femoral epiphysis || Abnormality of the epiphysis of the femoral head |
HMG-box | 0.1906 | INHERITED FROM: Aplasia/Hypoplasia of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th finger || Aplasia/Hypoplasia of the distal phalanx of the 5th finger || Aplasia/Hypoplasia of the distal phalanx of the 5th toe || Abnormality of the phalanges of the 5th toe || Abnormality of the distal phalanx of the 5th toe |
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain | 0.195 | INHERITED FROM: Hammertoe || Abnormality of the musculature of the limbs |
HLH, helix-loop-helix DNA-binding domain | 0.351 | INHERITED FROM: Abnormality of the phalanges of the 2nd finger |
Homeodomain | 0.4268 | INHERITED FROM: Aplasia/Hypoplasia of the 2nd finger |
MIR domain | 0.4306 | INHERITED FROM: Abnormality of the musculature of the lower limbs || Abnormality of the calf musculature || Abnormality of the musculature of the upper limbs || Muscle hypertrophy of the lower extremities || Limb-girdle muscle weakness || Calf muscle hypertrophy |
LIM domain | 0.4776 | INHERITED FROM: Abnormality of the musculature of the lower limbs |
Tyrosine-dependent oxidoreductases | 0.4788 | INHERITED FROM: Palmoplantar hyperkeratosis |
Intermediate filament protein, coiled coil region | 0.5726 | INHERITED FROM: Abnormality of the plantar skin of foot || Palmar hyperkeratosis || Abnormality of the palm || Plantar hyperkeratosis |
I set domains | 0.5882 | INHERITED FROM: Abnormality of the middle phalanges of the toes || Abnormality of the tarsal bones || Aplasia of the phalanges of the hand || Short middle phalanx of toe || Aplasia involving bones of the extremities || Aplasia involving bones of the upper limbs |
SCOP term | FDR (all) | Annotation (direct or inherited) |
CCCH zinc finger | 0 | Direct |
Zn-finger domain of Sec23/24 | 0 | Direct |
CalX-beta domain | 0 | Direct |
Proteasome subunits | 0 | Direct |
Myotubularin-like phosphatases | 0 | Direct |
Filamin repeat (rod domain) | 0 | Direct |
Protein serine/threonine phosphatase | 0 | Direct |
C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
Helical domain of Sec23/24 | 0 | Direct |
p120GAP domain-like | 0 | Direct |
BRK domain-like | 0 | Direct |
SWIRM domain | 0 | Direct |
Notch domain | 0 | Direct |
Smc hinge domain | 0 | Direct |
XPF/Rad1/Mus81 nuclease | 0 | Direct |
Histone deacetylase, HDAC | 0 | Direct |
Regulator of chromosome condensation RCC1 | 0 | Direct |
Plakin repeat | 0 | Direct |
Hedgehog (development protein), N-terminal signaling domain | 0 | Direct |
Exostosin | 0 | Direct |
Inositol polyphosphate 5-phosphatase (IPP5) | 0 | Direct |
TB module/8-cys domain | 0 | Direct |
beta-sandwich domain of Sec23/24 | 0 | Direct |
Trunk domain of Sec23/24 | 0 | Direct |
Hedgehog C-terminal (Hog) autoprocessing domain | 0 | Direct |
Hect, E3 ligase catalytic domain | 0.001174 | Inherited |
Actin/HSP70 | 0.00249 | Inherited |
Erythroid transcription factor GATA-1 | 0.01073 | Inherited |
Myosin rod fragments | 0.0111 | Inherited |
PHD domain | 0.01428 | Inherited |
Bromodomain | 0.02536 | Inherited |
Tetratricopeptide repeat (TPR) | 0.0354 | Inherited |
a tRNA synthase domain | 0.04195 | Inherited |
Clathrin adaptor core protein | 0.04195 | Inherited |
Neurotransmitter-gated ion-channel transmembrane pore | 0.04798 | Inherited |
Nicotinic receptor ligand binding domain-like | 0.04798 | Inherited |
Histone lysine methyltransferases | 0.04889 | Inherited |
Calponin-homology domain, CH-domain | 0.05021 | Inherited |
VWC domain | 0.06576 | Inherited |
Transforming growth factor (TGF)-beta | 0.07124 | Inherited |
Growth factor receptor domain | 0.0754 | Inherited |
ZZ domain | 0.0805 | Inherited |
Insulin-like | 0.0805 | Inherited |
Hemopexin-like domain | 0.08065 | Inherited |
Laminin-type module | 0.09657 | Inherited |
ARID domain | 0.1124 | Inherited |
Matrix metalloproteases, catalytic domain | 0.129 | Inherited |
Tropomyosin | 0.129 | Inherited |
Anticodon-binding domain of Class II aaRS | 0.129 | Inherited |
MMP N-terminal domain | 0.129 | Inherited |
RecA protein-like (ATPase-domain) | 0.1384 | Inherited |
Integrin A (or I) domain | 0.1455 | Inherited |
Spectrin repeat | 0.1461 | Inherited |
Classic zinc finger, C2H2 | 0.1463 | Inherited |
SNARE fusion complex | 0.1879 | Inherited |
Fibronectin type II module | 0.1879 | Inherited |
TSP-1 type 1 repeat | 0.1906 | Inherited |
HMG-box | 0.1906 | Inherited |
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain | 0.195 | Inherited |
HLH, helix-loop-helix DNA-binding domain | 0.351 | Inherited |
Homeodomain | 0.4268 | Inherited |
MIR domain | 0.4306 | Inherited |
LIM domain | 0.4776 | Inherited |
Tyrosine-dependent oxidoreductases | 0.4788 | Inherited |
Intermediate filament protein, coiled coil region | 0.5726 | Inherited |
I set domains | 0.5882 | Inherited |
Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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A presence/absence matrix is generated using protein domain
architecture data for all genomes in SUPERFAMILY. The PAUP
software is used to produce a single, large tree topology using
heuristic parsimony methods. Genome combinations, or specific clades, can be displayed as
if individual trees had been produced. However, this data is extracted from the single
large tree. This produces a higher quality topology than if the trees had been produced
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Supra-domain (including individual superfamily)
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Supra-domains annotated to this HP term (SPHO level: Least Informative)
Highlighted in gray are those with FDR>0.001
Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
75399,75399 75399 - Plakin repeat 75399 - Plakin repeat | 0 | DIRECT |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | DIRECT |
81811,82754 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
81383,52047 81383 - F-box domain 52047 - RNI-like | 0 | DIRECT |
55166,51294 55166 - Hedgehog/DD-peptidase 51294 - Hedgehog/intein (Hint) domain | 0 | DIRECT |
52980,47781 52980 - Restriction endonuclease-like 47781 - RuvA domain 2-like | 0 | DIRECT |
82919,53300 82919 - Zn-finger domain of Sec23/24 53300 - vWA-like | 0 | DIRECT |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0 | DIRECT |
57196,90193 57196 - EGF/Laminin 90193 - Notch domain | 0 | DIRECT |
81995,81811 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 | 0 | DIRECT |
49562,48350 49562 - C2 domain (Calcium/lipid-binding domain, CaLB) 48350 - GTPase activation domain, GAP | 0 | DIRECT |
141072,141072 141072 - CalX-like 141072 - CalX-like | 0 | DIRECT |
50729,56112 50729 - PH domain-like 56112 - Protein kinase-like (PK-like) | 0 | DIRECT |
53300,81995 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 | 0 | DIRECT |
57184,57581 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | DIRECT |
103575,48726 103575 - Plexin repeat 48726 - Immunoglobulin | 0 | DIRECT |
57581,57184 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | DIRECT |
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.01849 | INHERITED FROM: Abnormal digit morphology || Brachydactyly |
81296,81296 81296 - E set domains 81296 - E set domains | 0.02289 | INHERITED FROM: Abnormality of the ulna || Abnormality of forearm bone || Abnormality of the radius || Aplasia/Hypoplasia involving the metacarpal bones || Abnormality of the musculature of the upper limbs || Abnormality of fibula morphology || Aplasia/Hypoplasia of the fibula || Abnormal metacarpal morphology |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.02387 | INHERITED FROM: Short finger || Short phalanx of finger || Brachydactyly || Absent toe |
57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.04653 | INHERITED FROM: Interphalangeal joint contracture of finger || Plantar hyperkeratosis || Mitten deformity || Palmar hyperhidrosis |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.05313 | INHERITED FROM: Weakness of long finger extensor muscles || Abnormality of the shoulder girdle musculature || Hand muscle weakness || Shoulder girdle muscle weakness || Hip flexor weakness || Proximal muscle weakness in upper limbs || Abnormality of the musculature of the hand || Weakness of the intrinsic hand muscles || Pelvic girdle muscle weakness || Triceps weakness |
50729,50729 50729 - PH domain-like 50729 - PH domain-like | 0.06907 | INHERITED FROM: Interphalangeal joint contracture of finger || Camptodactyly of finger |
48452,48452 48452 - TPR-like 48452 - TPR-like | 0.07777 | INHERITED FROM: Postaxial polydactyly |
46579,64593 46579 - Prefoldin 64593 - Intermediate filament protein, coiled coil region | 0.08299 | INHERITED FROM: Plantar hyperkeratosis || Abnormality of the plantar skin of foot || Abnormality of the skin of the palm || Abnormality of the palm || Palmar hyperkeratosis || Palmoplantar hyperkeratosis |
57903,57903 57903 - FYVE/PHD zinc finger 57903 - FYVE/PHD zinc finger | 0.1177 | INHERITED FROM: Short digit || Short phalanx of finger || Aplasia/Hypoplasia of the phalanges of the hand |
47090,55486 47090 - PGBD-like 55486 - Metalloproteases ("zincins"), catalytic domain | 0.1356 | INHERITED FROM: Metaphyseal widening |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.1939 | INHERITED FROM: Increased laxity of fingers || Interphalangeal joint contracture of finger || Abnormality of the elbow || Elbow flexion contracture || Slender finger || Adducted thumb || Finger joint hypermobility || Joint contracture of the hand || Hip dislocation || Flexion contracture of finger || Ankle flexion contracture || Pes valgus || Abnormality of the hip joint || Increased laxity of ankles || Abnormality of the knee || Knee flexion contracture || Long toe || Talipes equinovarus || Abnormality of hand joint mobility || Abnormal thumb morphology || Limb-girdle muscle weakness || Limited elbow movement || Camptodactyly of finger || Abnormal phalangeal joint morphology of the hand || Abnormality of the ankles |
57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.2596 | INHERITED FROM: Abnormality of the musculature of the lower limbs |
46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.2919 | INHERITED FROM: Abnormality of the Achilles tendon || Abnormality of the musculature of the lower limbs || Achilles tendon contracture |
48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.3499 | INHERITED FROM: Abnormality of the tarsal bones || Short middle phalanx of toe || Elbow ankylosis || Abnormality of the middle phalanges of the toes |
57667,57667 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers | 0.5784 | INHERITED FROM: Hand polydactyly || Duplication of bones involving the upper extremities |
64593,64593 64593 - Intermediate filament protein, coiled coil region 64593 - Intermediate filament protein, coiled coil region | 0.8007 | INHERITED FROM: Abnormality of the plantar skin of foot |
Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
75399,75399 75399 - Plakin repeat 75399 - Plakin repeat | 0 | Direct |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | Direct |
81811,82754 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
81383,52047 81383 - F-box domain 52047 - RNI-like | 0 | Direct |
55166,51294 55166 - Hedgehog/DD-peptidase 51294 - Hedgehog/intein (Hint) domain | 0 | Direct |
52980,47781 52980 - Restriction endonuclease-like 47781 - RuvA domain 2-like | 0 | Direct |
82919,53300 82919 - Zn-finger domain of Sec23/24 53300 - vWA-like | 0 | Direct |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0 | Direct |
57196,90193 57196 - EGF/Laminin 90193 - Notch domain | 0 | Direct |
81995,81811 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 | 0 | Direct |
49562,48350 49562 - C2 domain (Calcium/lipid-binding domain, CaLB) 48350 - GTPase activation domain, GAP | 0 | Direct |
141072,141072 141072 - CalX-like 141072 - CalX-like | 0 | Direct |
50729,56112 50729 - PH domain-like 56112 - Protein kinase-like (PK-like) | 0 | Direct |
53300,81995 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 | 0 | Direct |
57184,57581 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | Direct |
103575,48726 103575 - Plexin repeat 48726 - Immunoglobulin | 0 | Direct |
57581,57184 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | Direct |
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.01849 | Inherited |
81296,81296 81296 - E set domains 81296 - E set domains | 0.02289 | Inherited |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.02387 | Inherited |
57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.04653 | Inherited |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.05313 | Inherited |
50729,50729 50729 - PH domain-like 50729 - PH domain-like | 0.06907 | Inherited |
48452,48452 48452 - TPR-like 48452 - TPR-like | 0.07777 | Inherited |
46579,64593 46579 - Prefoldin 64593 - Intermediate filament protein, coiled coil region | 0.08299 | Inherited |
57903,57903 57903 - FYVE/PHD zinc finger 57903 - FYVE/PHD zinc finger | 0.1177 | Inherited |
47090,55486 47090 - PGBD-like 55486 - Metalloproteases ("zincins"), catalytic domain | 0.1356 | Inherited |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.1939 | Inherited |
57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.2596 | Inherited |
46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.2919 | Inherited |
48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.3499 | Inherited |
57667,57667 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers | 0.5784 | Inherited |
64593,64593 64593 - Intermediate filament protein, coiled coil region 64593 - Intermediate filament protein, coiled coil region | 0.8007 | Inherited |
(show details)
Supra-domains annotated to this HP term (SPHO level: Least Informative)
Highlighted in gray are those with FDR>0.001
Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,57581,57196 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | DIRECT |
57184,57581,57196 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | DIRECT |
53300,81995,81811 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 | 0 | DIRECT |
57196,57196,57581 57196 - EGF/Laminin 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0 | DIRECT |
57184,57184,57196 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0 | DIRECT |
141072,141072,141072 141072 - CalX-like 141072 - CalX-like 141072 - CalX-like | 0 | DIRECT |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0 | DIRECT |
57184,57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0 | DIRECT |
57581,57196,57581 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0 | DIRECT |
57184,57184,57581 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | DIRECT |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0 | DIRECT |
57196,57196,90193 57196 - EGF/Laminin 57196 - EGF/Laminin 90193 - Notch domain | 0 | DIRECT |
57184,57581,57184 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | DIRECT |
57196,57581,57184 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | DIRECT |
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0 | DIRECT |
57581,57184,57581 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | DIRECT |
101912,103575,48726 101912 - Sema domain 103575 - Plexin repeat 48726 - Immunoglobulin | 0 | DIRECT |
81995,81811,82754 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.006618 | INHERITED FROM: Short finger || Abnormality of limb bone morphology || Short phalanx of finger || Brachydactyly || Absent toe |
81296,81296,81296 81296 - E set domains 81296 - E set domains 81296 - E set domains | 0.02289 | INHERITED FROM: Abnormality of the ulna || Abnormality of forearm bone || Abnormality of the radius || Aplasia/Hypoplasia involving the metacarpal bones || Abnormality of the musculature of the upper limbs || Abnormality of fibula morphology || Aplasia/Hypoplasia of the fibula || Abnormal metacarpal morphology |
48726,48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.09974 | INHERITED FROM: Abnormality of the tarsal bones || Short middle phalanx of toe || Elbow ankylosis || Rocker bottom foot || Abnormality of the middle phalanges of the toes |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1356 | INHERITED FROM: Clubbing of fingers || Abnormal fingertip morphology || Clubbing |
57716,57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.3143 | INHERITED FROM: Abnormality of the musculature of the lower limbs |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.3291 | INHERITED FROM: Mitten deformity || Palmar hyperhidrosis |
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.3845 | INHERITED FROM: Contractures involving the joints of the feet || Abnormality of the Achilles tendon || Abnormality of the musculature of the lower limbs || Achilles tendon contracture |
Supra-domain (Triple) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
57196,57581,57196 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | Direct |
57184,57581,57196 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0 | Direct |
53300,81995,81811 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 | 0 | Direct |
57196,57196,57581 57196 - EGF/Laminin 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0 | Direct |
57184,57184,57196 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0 | Direct |
141072,141072,141072 141072 - CalX-like 141072 - CalX-like 141072 - CalX-like | 0 | Direct |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0 | Direct |
57184,57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0 | Direct |
57581,57196,57581 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0 | Direct |
57184,57184,57581 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | Direct |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0 | Direct |
57196,57196,90193 57196 - EGF/Laminin 57196 - EGF/Laminin 90193 - Notch domain | 0 | Direct |
57184,57581,57184 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | Direct |
57196,57581,57184 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain | 0 | Direct |
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0 | Direct |
57581,57184,57581 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain | 0 | Direct |
101912,103575,48726 101912 - Sema domain 103575 - Plexin repeat 48726 - Immunoglobulin | 0 | Direct |
81995,81811,82754 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.006618 | Inherited |
81296,81296,81296 81296 - E set domains 81296 - E set domains 81296 - E set domains | 0.02289 | Inherited |
48726,48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.09974 | Inherited |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.1356 | Inherited |
57716,57716,57716 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) 57716 - Glucocorticoid receptor-like (DNA-binding domain) | 0.3143 | Inherited |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.3291 | Inherited |
46966,46966,46966 46966 - Spectrin repeat 46966 - Spectrin repeat 46966 - Spectrin repeat | 0.3845 | Inherited |
Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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