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Phenotypic Abnormality (PA): Abnormality of the eye
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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) |
Zn-finger domain of Sec23/24 | 0 | DIRECT |
Proteasome subunits | 0 | DIRECT |
Ferredoxin domains from multidomain proteins | 0 | DIRECT |
Protein serine/threonine phosphatase | 0 | DIRECT |
C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
Multidrug efflux transporter AcrB transmembrane domain | 0 | DIRECT |
Neurotrophin | 0 | DIRECT |
Helical domain of Sec23/24 | 0 | DIRECT |
Clathrin adaptor core protein | 0 | DIRECT |
Glycosyl transferases group 1 | 0 | DIRECT |
Cytochrome b5 | 0 | DIRECT |
p120GAP domain-like | 0 | DIRECT |
RUN domain | 0 | DIRECT |
Crystallins/Ca-binding development proteins | 0 | DIRECT |
beta-glycanases | 0 | DIRECT |
tRNA-intron endonuclease catalytic domain-like | 0 | DIRECT |
Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A | 0 | DIRECT |
RhoGDI-like | 0 | DIRECT |
Notch domain | 0 | DIRECT |
Smc hinge domain | 0 | DIRECT |
XPF/Rad1/Mus81 nuclease | 0 | DIRECT |
FKBP immunophilin/proline isomerase | 0 | DIRECT |
Histone deacetylase, HDAC | 0 | DIRECT |
Hect, E3 ligase catalytic domain | 0 | DIRECT |
Prefoldin | 0 | DIRECT |
Ribonuclease PH domain 1-like | 0 | DIRECT |
VWC domain | 0 | DIRECT |
C5 cytosine-specific DNA methylase, DCM | 0 | DIRECT |
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | DIRECT |
Inositol polyphosphate 5-phosphatase (IPP5) | 0 | DIRECT |
Small Kunitz-type inhibitors & BPTI-like toxins | 0 | DIRECT |
Ribonuclease PH domain 2-like | 0 | DIRECT |
Connexin43 | 0 | DIRECT |
beta-sandwich domain of Sec23/24 | 0 | DIRECT |
Trunk domain of Sec23/24 | 0 | DIRECT |
PWWP domain | 0 | DIRECT |
IF2B-like | 0 | DIRECT |
Tetratricopeptide repeat (TPR) | 0.00002913 | DIRECT |
Laminin G-like module | 0.002282 | INHERITED FROM: Bone spicule pigmentation of the retina || Ophthalmoplegia |
G proteins | 0.0207 | INHERITED FROM: Moderately reduced visual acuity || Strabismus || Abnormality of the optic disc || Nystagmus || Central scotoma |
Homeodomain | 0.02256 | INHERITED FROM: Optic nerve hypoplasia || Abnormal corneal endothelium morphology || Septo-optic dysplasia || Aplasia/Hypoplasia of the optic nerve || Aplasia/Hypoplasia affecting the eye |
PHD domain | 0.03206 | INHERITED FROM: Strabismus || Abnormal conjugate eye movement |
Extended AAA-ATPase domain | 0.05113 | INHERITED FROM: Nystagmus |
Fibroblast growth factors (FGF) | 0.06884 | INHERITED FROM: Color vision defect |
Histone lysine methyltransferases | 0.0952 | INHERITED FROM: Hypertelorism |
ARID domain | 0.1004 | INHERITED FROM: Lacrimation abnormality || Strabismus || Abnormal conjugate eye movement |
Neurotransmitter-gated ion-channel transmembrane pore | 0.1189 | INHERITED FROM: Uncontrolled eye movements |
Nicotinic receptor ligand binding domain-like | 0.1189 | INHERITED FROM: Uncontrolled eye movements |
Phosphate binding protein-like | 0.1307 | INHERITED FROM: Cerebral visual impairment |
cAMP-binding domain | 0.1437 | INHERITED FROM: Abnormal electroretinogram || Abnormal visual electrophysiology || Photophobia |
CalX-beta domain | 0.147 | INHERITED FROM: Microphthalmia || Anophthalmia |
Caspase recruitment domain, CARD | 0.147 | INHERITED FROM: Uveitis || Inflammatory abnormality of the eye |
DNA gyrase/MutL, second domain | 0.147 | INHERITED FROM: Amaurosis fugax || Visual field defect |
TB module/8-cys domain | 0.147 | INHERITED FROM: Ectopia lentis |
DNA gyrase/MutL, N-terminal domain | 0.147 | INHERITED FROM: Amaurosis fugax || Visual field defect |
Transglutaminase core | 0.1788 | INHERITED FROM: Abnormal corneal epithelium morphology |
C1 set domains (antibody constant domain-like) | 0.1907 | INHERITED FROM: Inflammatory abnormality of the eye || Keratoconjunctivitis sicca |
GAF domain | 0.2155 | INHERITED FROM: Abnormality of retinal pigmentation || Retinal dystrophy || Abnormal electroretinogram || Abnormal retinal vascular morphology || Abnormal visual electrophysiology || Reduced visual acuity |
FHA domain | 0.245 | INHERITED FROM: Abnormal saccadic eye movements |
Arylsulfatase | 0.245 | INHERITED FROM: Opacification of the corneal stroma |
RecA protein-like (ATPase-domain) | 0.245 | INHERITED FROM: Aplasia/Hypoplasia affecting the anterior segment of the eye |
HMG-box | 0.2613 | INHERITED FROM: Lacrimation abnormality |
Noncollagenous (NC1) domain of collagen IV | 0.3235 | INHERITED FROM: Anterior lenticonus || Lenticonus || Abnormality of refraction || Abnormality of lens shape || Myopia || Corneal erosion |
Intermediate filament protein, coiled coil region | 0.345 | INHERITED FROM: Corneal dystrophy |
MHC antigen-recognition domain | 0.3748 | INHERITED FROM: Inflammatory abnormality of the eye |
Bromodomain | 0.3963 | INHERITED FROM: Strabismus |
BCR-homology GTPase activation domain (BH-domain) | 0.4248 | INHERITED FROM: Abnormal pupil morphology || Deeply set eye |
Pyrin domain, PYD | 0.4302 | INHERITED FROM: Abnormal corneal epithelium morphology || Inflammatory abnormality of the eye || Photophobia || Conjunctivitis || Keratitis || Red eye |
28-residue LRR | 0.4578 | INHERITED FROM: Optic neuritis || Retrobulbar optic neuritis || Uveitis || Photophobia || Conjunctivitis || Red eye |
EGF-type module | 0.5064 | INHERITED FROM: Chorioretinal degeneration || Abnormal anterior chamber morphology || Chorioretinal atrophy |
LDL receptor-like module | 0.5262 | INHERITED FROM: Yellow/white lesions of the retina |
PDZ domain | 0.5337 | INHERITED FROM: Hemianopia || Iris hypopigmentation |
DEATH domain, DD | 0.7257 | INHERITED FROM: Uveitis |
I set domains | 0.7473 | INHERITED FROM: Recurrent corneal erosions |
Integrin A (or I) domain | 0.758 | INHERITED FROM: Esodeviation || Esotropia |
TSP-1 type 1 repeat | 0.8362 | INHERITED FROM: Ectopia lentis |
Complement control module/SCR domain | 0.9784 | INHERITED FROM: Drusen || Yellow/white lesions of the retina |
Rhodopsin-like | 1 | INHERITED FROM: Anomalous trichromacy |
SCOP term | FDR (all) | Annotation (direct or inherited) |
Zn-finger domain of Sec23/24 | 0 | Direct |
Proteasome subunits | 0 | Direct |
Ferredoxin domains from multidomain proteins | 0 | Direct |
Protein serine/threonine phosphatase | 0 | Direct |
C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
Multidrug efflux transporter AcrB transmembrane domain | 0 | Direct |
Neurotrophin | 0 | Direct |
Helical domain of Sec23/24 | 0 | Direct |
Clathrin adaptor core protein | 0 | Direct |
Glycosyl transferases group 1 | 0 | Direct |
Cytochrome b5 | 0 | Direct |
p120GAP domain-like | 0 | Direct |
RUN domain | 0 | Direct |
Crystallins/Ca-binding development proteins | 0 | Direct |
beta-glycanases | 0 | Direct |
tRNA-intron endonuclease catalytic domain-like | 0 | Direct |
Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A | 0 | Direct |
RhoGDI-like | 0 | Direct |
Notch domain | 0 | Direct |
Smc hinge domain | 0 | Direct |
XPF/Rad1/Mus81 nuclease | 0 | Direct |
FKBP immunophilin/proline isomerase | 0 | Direct |
Histone deacetylase, HDAC | 0 | Direct |
Hect, E3 ligase catalytic domain | 0 | Direct |
Prefoldin | 0 | Direct |
Ribonuclease PH domain 1-like | 0 | Direct |
VWC domain | 0 | Direct |
C5 cytosine-specific DNA methylase, DCM | 0 | Direct |
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | Direct |
Inositol polyphosphate 5-phosphatase (IPP5) | 0 | Direct |
Small Kunitz-type inhibitors & BPTI-like toxins | 0 | Direct |
Ribonuclease PH domain 2-like | 0 | Direct |
Connexin43 | 0 | Direct |
beta-sandwich domain of Sec23/24 | 0 | Direct |
Trunk domain of Sec23/24 | 0 | Direct |
PWWP domain | 0 | Direct |
IF2B-like | 0 | Direct |
Tetratricopeptide repeat (TPR) | 0.00002913 | Direct |
Laminin G-like module | 0.002282 | Inherited |
G proteins | 0.0207 | Inherited |
Homeodomain | 0.02256 | Inherited |
PHD domain | 0.03206 | Inherited |
Extended AAA-ATPase domain | 0.05113 | Inherited |
Fibroblast growth factors (FGF) | 0.06884 | Inherited |
Histone lysine methyltransferases | 0.0952 | Inherited |
ARID domain | 0.1004 | Inherited |
Neurotransmitter-gated ion-channel transmembrane pore | 0.1189 | Inherited |
Nicotinic receptor ligand binding domain-like | 0.1189 | Inherited |
Phosphate binding protein-like | 0.1307 | Inherited |
cAMP-binding domain | 0.1437 | Inherited |
CalX-beta domain | 0.147 | Inherited |
Caspase recruitment domain, CARD | 0.147 | Inherited |
DNA gyrase/MutL, second domain | 0.147 | Inherited |
TB module/8-cys domain | 0.147 | Inherited |
DNA gyrase/MutL, N-terminal domain | 0.147 | Inherited |
Transglutaminase core | 0.1788 | Inherited |
C1 set domains (antibody constant domain-like) | 0.1907 | Inherited |
GAF domain | 0.2155 | Inherited |
FHA domain | 0.245 | Inherited |
Arylsulfatase | 0.245 | Inherited |
RecA protein-like (ATPase-domain) | 0.245 | Inherited |
HMG-box | 0.2613 | Inherited |
Noncollagenous (NC1) domain of collagen IV | 0.3235 | Inherited |
Intermediate filament protein, coiled coil region | 0.345 | Inherited |
MHC antigen-recognition domain | 0.3748 | Inherited |
Bromodomain | 0.3963 | Inherited |
BCR-homology GTPase activation domain (BH-domain) | 0.4248 | Inherited |
Pyrin domain, PYD | 0.4302 | Inherited |
28-residue LRR | 0.4578 | Inherited |
EGF-type module | 0.5064 | Inherited |
LDL receptor-like module | 0.5262 | Inherited |
PDZ domain | 0.5337 | Inherited |
DEATH domain, DD | 0.7257 | Inherited |
I set domains | 0.7473 | Inherited |
Integrin A (or I) domain | 0.758 | Inherited |
TSP-1 type 1 repeat | 0.8362 | Inherited |
Complement control module/SCR domain | 0.9784 | Inherited |
Rhodopsin-like | 1 | Inherited |
Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Trees by TreeVector
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
on their own, and allows the trees to be displayed instantly.
Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]
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) |
53098,56672 53098 - Ribonuclease H-like 56672 - DNA/RNA polymerases | 0 | DIRECT |
81811,82754 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | DIRECT |
49899,57196 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin | 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 |
64268,50044 64268 - PX domain 50044 - SH3-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 |
50447,50465 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | DIRECT |
53300,81995 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 | 0 | DIRECT |
54211,55666 54211 - Ribosomal protein S5 domain 2-like 55666 - Ribonuclease PH domain 2-like | 0 | DIRECT |
52058,48726 52058 - L domain-like 48726 - Immunoglobulin | 0 | DIRECT |
57184,49899 57184 - Growth factor receptor domain 49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
49899,49899 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases | 0.005854 | INHERITED FROM: Bone spicule pigmentation of the retina || Ophthalmoplegia || Progressive night blindness |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.08301 | INHERITED FROM: Chorioretinal degeneration || Chorioretinal atrophy || Abnormal uvea morphology |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.1221 | INHERITED FROM: Abnormality of binocular vision || Uncontrolled eye movements |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0.1478 | INHERITED FROM: Ectopia lentis |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.1478 | INHERITED FROM: Ectopia lentis |
57196,63825 57196 - EGF/Laminin 63825 - YWTD domain | 0.1478 | INHERITED FROM: Abnormality of the lens || Cataract |
55874,54211 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase 54211 - Ribosomal protein S5 domain 2-like | 0.1478 | INHERITED FROM: Amaurosis fugax || Visual field defect |
55781,109604 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.2158 | INHERITED FROM: Abnormal retinal vascular morphology || Abnormality of retinal pigmentation || Abnormal visual electrophysiology || Retinal dystrophy || Reduced visual acuity || Abnormal electroretinogram |
51206,51206 51206 - cAMP-binding domain-like 51206 - cAMP-binding domain-like | 0.2158 | INHERITED FROM: Abnormality iris morphology |
55781,55781 55781 - GAF domain-like 55781 - GAF domain-like | 0.2158 | INHERITED FROM: Abnormal retinal vascular morphology || Abnormality of retinal pigmentation || Abnormal visual electrophysiology || Retinal dystrophy || Reduced visual acuity || Abnormal electroretinogram |
82895,82895 82895 - TSP-1 type 1 repeat 82895 - TSP-1 type 1 repeat | 0.2444 | INHERITED FROM: Ectopia lentis |
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.3054 | INHERITED FROM: Ectopia lentis || Abnormal anterior chamber morphology |
50156,50156 50156 - PDZ domain-like 50156 - PDZ domain-like | 0.3179 | INHERITED FROM: Hemianopia || Scotoma || Iris hypopigmentation |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.3774 | INHERITED FROM: Inflammatory abnormality of the eye |
64593,64593 64593 - Intermediate filament protein, coiled coil region 64593 - Intermediate filament protein, coiled coil region | 0.3774 | INHERITED FROM: Corneal dystrophy |
56436,56436 56436 - C-type lectin-like 56436 - C-type lectin-like | 0.4025 | INHERITED FROM: Abnormality of lens shape || Corneal erosion || Abnormality of refraction || Anterior lenticonus || Myopia || Lenticonus |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.4304 | INHERITED FROM: Esotropia || Heterotropia || Esodeviation |
47986,52540 47986 - DEATH domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.4304 | INHERITED FROM: Retrobulbar optic neuritis || Uveitis || Optic neuritis || Inflammatory abnormality of the eye || Conjunctivitis || Red eye |
57184,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.506 | INHERITED FROM: Ectopia lentis || Abnormal uvea morphology |
51445,51011 51445 - (Trans)glycosidases 51011 - Glycosyl hydrolase domain | 0.5515 | INHERITED FROM: Corneal opacity |
48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.6551 | INHERITED FROM: Recurrent corneal erosions |
57586,57586 57586 - TNF receptor-like 57586 - TNF receptor-like | 0.6798 | INHERITED FROM: Conjunctivitis || Red eye |
57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.9458 | INHERITED FROM: Yellow/white lesions of the retina || Drusen |
Supra-domain (Duplex) in N- to C-terminal order |
FDR (all) |
Annotation (direct or inherited) |
53098,56672 53098 - Ribonuclease H-like 56672 - DNA/RNA polymerases | 0 | Direct |
81811,82754 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24 | 0 | Direct |
49899,57196 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin | 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 |
64268,50044 64268 - PX domain 50044 - SH3-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 |
50447,50465 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | Direct |
53300,81995 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 | 0 | Direct |
54211,55666 54211 - Ribosomal protein S5 domain 2-like 55666 - Ribonuclease PH domain 2-like | 0 | Direct |
52058,48726 52058 - L domain-like 48726 - Immunoglobulin | 0 | Direct |
57184,49899 57184 - Growth factor receptor domain 49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
49899,49899 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases | 0.005854 | Inherited |
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.08301 | Inherited |
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore | 0.1221 | Inherited |
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin | 0.1478 | Inherited |
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.1478 | Inherited |
57196,63825 57196 - EGF/Laminin 63825 - YWTD domain | 0.1478 | Inherited |
55874,54211 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase 54211 - Ribosomal protein S5 domain 2-like | 0.1478 | Inherited |
55781,109604 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.2158 | Inherited |
51206,51206 51206 - cAMP-binding domain-like 51206 - cAMP-binding domain-like | 0.2158 | Inherited |
55781,55781 55781 - GAF domain-like 55781 - GAF domain-like | 0.2158 | Inherited |
82895,82895 82895 - TSP-1 type 1 repeat 82895 - TSP-1 type 1 repeat | 0.2444 | Inherited |
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.3054 | Inherited |
50156,50156 50156 - PDZ domain-like 50156 - PDZ domain-like | 0.3179 | Inherited |
54452,48726 54452 - MHC antigen-recognition domain 48726 - Immunoglobulin | 0.3774 | Inherited |
64593,64593 64593 - Intermediate filament protein, coiled coil region 64593 - Intermediate filament protein, coiled coil region | 0.3774 | Inherited |
56436,56436 56436 - C-type lectin-like 56436 - C-type lectin-like | 0.4025 | Inherited |
53300,53300 53300 - vWA-like 53300 - vWA-like | 0.4304 | Inherited |
47986,52540 47986 - DEATH domain 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.4304 | Inherited |
57184,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.506 | Inherited |
51445,51011 51445 - (Trans)glycosidases 51011 - Glycosyl hydrolase domain | 0.5515 | Inherited |
48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin | 0.6551 | Inherited |
57586,57586 57586 - TNF receptor-like 57586 - TNF receptor-like | 0.6798 | Inherited |
57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.9458 | 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 |
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 |
49899,57196,49899 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin 49899 - Concanavalin A-like lectins/glucanases | 0 | DIRECT |
141072,141072,141072 141072 - CalX-like 141072 - CalX-like 141072 - CalX-like | 0 | DIRECT |
52540,50447,50465 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | DIRECT |
48452,48452,48452 48452 - TPR-like 48452 - TPR-like 48452 - TPR-like | 0 | DIRECT |
57424,57184,63825 57424 - LDL receptor-like module 57184 - Growth factor receptor domain 63825 - YWTD domain | 0 | DIRECT |
52058,48726,48726 52058 - L domain-like 48726 - Immunoglobulin 48726 - Immunoglobulin | 0 | DIRECT |
49899,49899,57196 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin | 0 | DIRECT |
57196,57196,90193 57196 - EGF/Laminin 57196 - EGF/Laminin 90193 - Notch 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 |
57424,57424,57184 57424 - LDL receptor-like module 57424 - LDL receptor-like module 57184 - Growth factor receptor domain | 0 | DIRECT |
57184,49899,49899 57184 - Growth factor receptor domain 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases | 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 |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.04634 | INHERITED FROM: Corneal dystrophy |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.06876 | INHERITED FROM: Abnormal anterior eye segment morphology || Abnormality of the lens || Abnormal anterior chamber morphology || Myopia |
57196,57184,57196 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.06876 | INHERITED FROM: Abnormal anterior eye segment morphology || Abnormal electroretinogram |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.06963 | INHERITED FROM: Abnormal anterior eye segment morphology || Chorioretinal degeneration || Chorioretinal atrophy || Cataract || Abnormal uvea morphology |
82895,82895,82895 82895 - TSP-1 type 1 repeat 82895 - TSP-1 type 1 repeat 82895 - TSP-1 type 1 repeat | 0.1461 | INHERITED FROM: Ectopia lentis || Myopia |
57581,57196,57581 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.1478 | INHERITED FROM: Ectopia lentis |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.1478 | INHERITED FROM: Ectopia lentis |
57184,57196,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.1802 | INHERITED FROM: Visual impairment || Ectopia lentis || Abnormal uvea morphology || Abnormal retinal morphology |
55781,55781,109604 55781 - GAF domain-like 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.2158 | INHERITED FROM: Abnormal retinal vascular morphology || Abnormality of retinal pigmentation || Abnormal visual electrophysiology || Retinal dystrophy || Reduced visual acuity || Abnormal electroretinogram |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.4121 | INHERITED FROM: Chorioretinal degeneration || Chorioretinal atrophy |
57535,57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.853 | INHERITED FROM: Yellow/white lesions of the retina || Macular degeneration || Drusen || Progressive visual loss |
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 |
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 |
49899,57196,49899 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin 49899 - Concanavalin A-like lectins/glucanases | 0 | Direct |
141072,141072,141072 141072 - CalX-like 141072 - CalX-like 141072 - CalX-like | 0 | Direct |
52540,50447,50465 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain | 0 | Direct |
48452,48452,48452 48452 - TPR-like 48452 - TPR-like 48452 - TPR-like | 0 | Direct |
57424,57184,63825 57424 - LDL receptor-like module 57184 - Growth factor receptor domain 63825 - YWTD domain | 0 | Direct |
52058,48726,48726 52058 - L domain-like 48726 - Immunoglobulin 48726 - Immunoglobulin | 0 | Direct |
49899,49899,57196 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin | 0 | Direct |
57196,57196,90193 57196 - EGF/Laminin 57196 - EGF/Laminin 90193 - Notch 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 |
57424,57424,57184 57424 - LDL receptor-like module 57424 - LDL receptor-like module 57184 - Growth factor receptor domain | 0 | Direct |
57184,49899,49899 57184 - Growth factor receptor domain 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases | 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 |
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases | 0.04634 | Inherited |
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain | 0.06876 | Inherited |
57196,57184,57196 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57196 - EGF/Laminin | 0.06876 | Inherited |
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain | 0.06963 | Inherited |
82895,82895,82895 82895 - TSP-1 type 1 repeat 82895 - TSP-1 type 1 repeat 82895 - TSP-1 type 1 repeat | 0.1461 | Inherited |
57581,57196,57581 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57581 - TB module/8-cys domain | 0.1478 | Inherited |
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.1478 | Inherited |
57184,57196,57196 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.1802 | Inherited |
55781,55781,109604 55781 - GAF domain-like 55781 - GAF domain-like 109604 - HD-domain/PDEase-like | 0.2158 | Inherited |
57196,57196,57196 57196 - EGF/Laminin 57196 - EGF/Laminin 57196 - EGF/Laminin | 0.4121 | Inherited |
57535,57535,57535 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain 57535 - Complement control module/SCR domain | 0.853 | Inherited |
Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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A presence/absence matrix is generated using protein domains and supradomains
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