Exostosin family

SCOP classification

• Root: SCOP hierarchy in SUPERFAMILY [ 0] (11)
• Class: Alpha and beta proteins (a/b) [ 51349] (147)
• Fold: Nucleotide-diphospho-sugar transferases [ 53447]
• Superfamily: Nucleotide-diphospho-sugar transferases [ 53448] (19)
• Family: Exostosin [ 89760]

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Family statistics

	Genomes (125)	Uniprot 2018_03 genome	PDB chains (SCOP 1.75)
Domains	299	860	1
Proteins	298	860	1

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Enzyme Commission (EC)

Highlighted in gray are those with FDR_all>0.001

	EC term	FDR (all)	IC level	SDEO level	Annotation (direct or inherited)
Enzyme Commission (EC)	acetylglucosaminyltransferase	0	2.741	--	DIRECT
Enzyme Commission (EC)	Transferases	0	0	--	DIRECT
Enzyme Commission (EC)	N-acetylglucosaminyl-proteoglycan 4-beta-glucurono	0	2.741	--	DIRECT
Enzyme Commission (EC)	acetylglucosaminyltransferase	0.0000000000006976	2.741	--	DIRECT
Enzyme Commission (EC)	Glycosyltransferases	0	0.993	Moderately Informative	DIRECT
Enzyme Commission (EC)	Hexosyltransferases	0	1.264	Informative	DIRECT

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Disease Ontology (DO)

Highlighted in gray are those with FDR_all>0.001

	DO term	FDR (all)	IC level	SDDO level	Annotation (direct or inherited)
Disease Ontology (DO)	hereditary multiple exostoses	0.000000000002005	2.513	--	DIRECT
Disease Ontology (DO)	exostosis	0.0000000003507	2.513	--	DIRECT
Disease Ontology (DO)	hyperostosis	0.000000004525	2.513	--	DIRECT
Disease Ontology (DO)	bone disease	0.001531	1.171	--	INHERITED FROM: hyperostosis || bone remodeling disease || exostosis || hereditary multiple exostoses
Disease Ontology (DO)	musculoskeletal system disease	0.005047	0.89	--	INHERITED FROM: hereditary multiple exostoses || exostosis || bone remodeling disease || hyperostosis
Disease Ontology (DO)	disease of anatomical entity	0.2003	0.2414	--	INHERITED FROM: hereditary multiple exostoses || hyperostosis || exostosis || bone remodeling disease
Disease Ontology (DO)	connective tissue disease	0.003173	1.022	Moderately Informative	INHERITED FROM: bone remodeling disease || hyperostosis || exostosis || hereditary multiple exostoses
Disease Ontology (DO)	bone remodeling disease	0.000002173	2.212	Highly Informative	DIRECT

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Human Phenotype (HP)

Highlighted in gray are those with FDR_all>0.001

	HP term	FDR (all)	IC level	SDHP level	Annotation (direct or inherited)
Mode of Inheritance (MI)	Autosomal recessive inheritance	0	0.2218	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of body height	0	1.348	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of head or neck	0	0.4454	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the head	0	0.4538	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the nasal alae	0	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the nasal tip	0	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Anteverted nares	0	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the nervous system	0	0.2371	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the skeletal system	0	0.4712	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal skull morphology	0	0.8826	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the metaphysis	0	1.763	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the skin	0	0.722	--	DIRECT
Phenotypic Abnormality (PA)	Growth abnormality	0	0.7903	--	DIRECT
Phenotypic Abnormality (PA)	Growth delay	0	1.316	--	DIRECT
Phenotypic Abnormality (PA)	Morphological abnormality of the central nervous system	0	0.533	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of pelvic girdle bone morphology	0	1.462	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the upper limb	0	0.9183	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of femur morphology	0	1.86	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the forearm	0	1.86	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the wrist	0	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Elbow dislocation	0	2.161	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the femoral neck or head region	0	1.86	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal muscle tone	0	0.8942	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal nasal morphology	0	1.763	--	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia of the cerebrum	0	1.184	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal axial skeleton morphology	0	0.6771	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of upper limb joint	0	1.763	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the curvature of the vertebral column	0	1.258	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of skin morphology	0	0.7722	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal digit morphology	0	1.14	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal muscle physiology	0	0.6915	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal appendicular skeleton morphology	0	0.8289	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of brain morphology	0	0.6631	--	DIRECT
Phenotypic Abnormality (PA)	Neurodevelopmental abnormality	0	0.7381	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of limb bone	0	0.9572	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal upper limb bone morphology	0	1.86	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of forearm bone	0	1.86	--	DIRECT
Phenotypic Abnormality (PA)	Decreased head circumference	0	1.348	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of forebrain morphology	0	0.9572	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the face	0	0.533	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the integument	0	0.6235	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the musculature	0	0.5433	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of skeletal morphology	0	0.513	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of nervous system physiology	0	0.3869	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of nervous system morphology	0	0.4756	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of limbs	0	0.6429	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of skull size	0	1.101	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the thorax	0	1.207	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the vertebral column	0	1.031	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the hand	0	1.031	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Muscular hypotonia	0	1.031	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal joint morphology	0	1.101	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the cerebrum	0	0.971	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of limb bone morphology	0	0.9572	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the lower limb	0	0.9309	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Aplasia/Hypoplasia involving the central nervous system	0	1.047	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of higher mental function	0	0.8092	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Microcephaly	0	1.383	Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the nose	0	1.258	Informative	DIRECT
Phenotypic Abnormality (PA)	Intellectual disability	0	1.421	Informative	DIRECT
Phenotypic Abnormality (PA)	Joint dislocation	0	1.508	Informative	DIRECT
Phenotypic Abnormality (PA)	Scoliosis	0	1.383	Informative	DIRECT
Phenotypic Abnormality (PA)	Short stature	0	1.421	Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of long bone morphology	0	1.462	Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal lower limb bone morphology	0	1.508	Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the nasal bridge	0	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the radius	0	1.86	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal bone structure	0	1.985	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the femoral neck	0	1.985	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the nares	0	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the elbow	0	1.985	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the external nose	0	1.985	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Upper extremity joint dislocation	0	2.161	Highly Informative	DIRECT

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Xenopus Anatomy (XA)

Highlighted in gray are those with FDR_all>0.001

	XA term	FDR (all)	IC level	SDXA level	Annotation (direct or inherited)
Xenopus ANatomical entity (XAN)	genital system	0	0.5751	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical structure	0	0	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical group	0	0.1408	--	DIRECT
Xenopus ANatomical entity (XAN)	compound organ	0	0.2177	--	DIRECT
Xenopus ANatomical entity (XAN)	multicellular anatomical structure	0	0.1131	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical system	1	0.283	--	INHERITED FROM: urogenital system || genital system
Xenopus ANatomical entity (XAN)	whole organism	1	0.0884	--	INHERITED FROM: urogenital system || genital system || anatomical group || multicellular anatomical structure || compound organ
Xenopus ANatomical entity (XAN)	urogenital system	0	0.4777	Least Informative	DIRECT
Xenopus DEvelopment stage (XDE)	NF stage	0	0.01895	--	DIRECT

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Arabidopsis Plant Ontology (AP)

Highlighted in gray are those with FDR_all>0.001

	AP term	FDR (all)	IC level	SDAP level	Annotation (direct or inherited)
Plant ANatomical entity (PAN)	whole plant	0	0.3507	--	DIRECT
Plant ANatomical entity (PAN)	plant cell	0	0.1228	--	DIRECT
Plant ANatomical entity (PAN)	shoot system	0	0.05272	--	DIRECT
Plant ANatomical entity (PAN)	flower	0	0.3446	--	DIRECT
Plant ANatomical entity (PAN)	collective phyllome structure	0	0.3837	--	DIRECT
Plant ANatomical entity (PAN)	reproductive shoot system	0	0.3304	--	DIRECT
Plant ANatomical entity (PAN)	collective plant structure	0	0.01555	--	DIRECT
Plant ANatomical entity (PAN)	plant structure	1	0	--	INHERITED FROM: flower || collective plant structure || plant embryo || reproductive shoot system || collective leaf structure || shoot system || whole plant || collective phyllome structure || plant cell
Plant ANatomical entity (PAN)	collective plant organ structure	1	0.03998	--	INHERITED FROM: flower || reproductive shoot system || collective phyllome structure || shoot system || collective leaf structure
Plant ANatomical entity (PAN)	plant embryo	0	0.4978	Least Informative	DIRECT
Plant ANatomical entity (PAN)	collective leaf structure	0	0.46	Least Informative	DIRECT
Plant structure DEvelopment stage (PDE)	whole plant development stage	0	0.1547	--	DIRECT
Plant structure DEvelopment stage (PDE)	sporophyte vegetative stage	0	0.1593	--	DIRECT
Plant structure DEvelopment stage (PDE)	flowering stage	0	0.1648	--	DIRECT
Plant structure DEvelopment stage (PDE)	plant embryo stage	0	0.2319	--	DIRECT
Plant structure DEvelopment stage (PDE)	collective plant organ structure development stage	0	0.0282	--	DIRECT
Plant structure DEvelopment stage (PDE)	reproductive shoot system development stage	0	0.0371	--	DIRECT
Plant structure DEvelopment stage (PDE)	flower development stage	1	0.05402	--	INHERITED FROM: flowering stage
Plant structure DEvelopment stage (PDE)	life of whole plant stage	1	0.1584	--	INHERITED FROM: sporophyte vegetative stage || C globular stage || plant embryo stage
Plant structure DEvelopment stage (PDE)	shoot system development stage	1	0.02956	--	INHERITED FROM: reproductive shoot system development stage || flowering stage
Plant structure DEvelopment stage (PDE)	sporophyte development stage	1	0.1584	--	INHERITED FROM: sporophyte vegetative stage || C globular stage || plant embryo stage
Plant structure DEvelopment stage (PDE)	C globular stage	0	0.3087	Least Informative	DIRECT

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Enzyme Commission (EC)

Highlighted in gray are those with FDR_all>0.001

	EC term	FDR (all)	IC level	SDEC level	Annotation (direct or inherited)
Enzyme Commission (EC)	Hexosyltransferases	0	1.65	--	DIRECT
Enzyme Commission (EC)	acetylglucosaminyltransferase	0	3.23	--	DIRECT
Enzyme Commission (EC)	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase	0	3.23	--	DIRECT
Enzyme Commission (EC)	acetylglucosaminyltransferase	0.0000000000002285	3.23	--	DIRECT
Enzyme Commission (EC)	Transferases	0	0.3972	Least Informative	DIRECT
Enzyme Commission (EC)	Glycosyltransferases	0	1.378	Informative	DIRECT

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