BCR-homology GTPase activation domain (BH-domain) family

SCOP classification

• Root: SCOP hierarchy in SUPERFAMILY [ 0] (11)
• Class: All alpha proteins [ 46456] (284)
• Fold: GTPase activation domain, GAP [ 48349]
• Superfamily: GTPase activation domain, GAP [ 48350] (2)
• Family: BCR-homology GTPase activation domain (BH-domain) [ 48351] (5)

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Family statistics

	Genomes (330)	Uniprot 2018_03 genome	PDB chains (SCOP 1.75)
Domains	3,631	11,326	8
Proteins	3,627	11,321	8

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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)	disease of anatomical entity	0.8898	0.2414	--	INHERITED FROM: bone marrow disease
Disease Ontology (DO)	hematopoietic system disease	0.154	1.051	Moderately Informative	INHERITED FROM: bone marrow disease
Disease Ontology (DO)	bone marrow disease	0.000108	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)	Somatic mutation	0.0003464	1.243	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal pupil morphology	0.0001551	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Deeply set eye	0.000875	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of globe location	0.01763	1.763	--	INHERITED FROM: Deeply set eye
Phenotypic Abnormality (PA)	Abnormal eye morphology	0.2999	0.7812	--	INHERITED FROM: Abnormal pupil morphology || Deeply set eye
Phenotypic Abnormality (PA)	Abnormality of the eye	0.4248	0.5703	Least Informative	INHERITED FROM: Abnormal pupil morphology || Deeply set eye
Phenotypic Abnormality (PA)	Abnormal anterior eye segment morphology	0.4088	1.12	Moderately Informative	INHERITED FROM: Abnormal pupil morphology
Phenotypic Abnormality (PA)	Abnormal uvea morphology	0.1383	1.559	Informative	INHERITED FROM: Abnormal pupil morphology
Phenotypic Abnormality (PA)	Abnormality iris morphology	0.05567	1.86	Highly Informative	INHERITED FROM: Abnormal pupil morphology

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Worm Phenotype (WP)

Highlighted in gray are those with FDR_all>0.001

	WP term	FDR (all)	IC level	SDWP level	Annotation (direct or inherited)
Worm Phenotype (WP)	lethal	0	0.00521	--	DIRECT
Worm Phenotype (WP)	development variant	0	0.001482	--	DIRECT
Worm Phenotype (WP)	organism development variant	0	0.00297	--	DIRECT
Worm Phenotype (WP)	neurite morphology variant	0.00000001394	1.866	--	DIRECT
Worm Phenotype (WP)	neuron development variant	0.0000001207	1.321	--	DIRECT
Worm Phenotype (WP)	cell component morphology variant	0.0000001823	0.8392	--	DIRECT
Worm Phenotype (WP)	neuron morphology variant	0.0000002592	1.866	--	DIRECT
Worm Phenotype (WP)	axon branching variant	0.0000003518	2.292	--	DIRECT
Worm Phenotype (WP)	organ system morphology variant	0.000002096	0.7516	--	DIRECT
Worm Phenotype (WP)	cell morphology variant	0.00000265	0.7558	--	DIRECT
Worm Phenotype (WP)	mitochondria alignment variant	0.00009491	1.623	--	DIRECT
Worm Phenotype (WP)	mitochondria spacing variant	0.0001058	1.623	--	DIRECT
Worm Phenotype (WP)	nervous system morphology variant	0.0001245	1.321	--	DIRECT
Worm Phenotype (WP)	cleavage furrow defective	0.0006068	2.07	--	DIRECT
Worm Phenotype (WP)	muscle system physiology variant	0.0006597	1.306	--	DIRECT
Worm Phenotype (WP)	neuronal outgrowth variant	0.001057	1.565	--	INHERITED FROM: axon outgrowth variant || axon branching variant
Worm Phenotype (WP)	cytokinesis variant	0.009526	1.689	--	INHERITED FROM: cleavage furrow defective || cleavage furrow defective early emb
Worm Phenotype (WP)	cytokinesis defective early emb	0.01377	1.866	--	INHERITED FROM: cleavage furrow defective early emb
Worm Phenotype (WP)	morphology variant	0.6834	0.046	--	INHERITED FROM: neurite morphology variant || axon branching variant || nervous system morphology variant || neuron morphology variant || mitochondria alignment variant || organ system morphology variant || mitochondria spacing variant || cell morphology variant || axon morphology variant || cell component morphology variant
Worm Phenotype (WP)	organ system physiology variant	0.7875	0.04518	--	INHERITED FROM: muscle system physiology variant || muscle cell attachment variant
Worm Phenotype (WP)	embryonic development variant	0.8224	0.04518	--	INHERITED FROM: cleavage furrow defective early emb
Worm Phenotype (WP)	embryonic lethal	0.8353	0.046	--	INHERITED FROM: cleavage furrow defective early emb
Worm Phenotype (WP)	physiology variant	1	0	--	INHERITED FROM: lethal || development variant || cleavage furrow defective early emb || muscle cell attachment variant || axon branching variant || axon outgrowth variant || muscle system physiology variant || cleavage furrow defective || neuron development variant || organism development variant || cell development variant
Worm Phenotype (WP)	cell development variant	0.00004823	0.6752	Least Informative	DIRECT
Worm Phenotype (WP)	cell physiology variant	0.06281	0.5955	Least Informative	INHERITED FROM: cleavage furrow defective || cleavage furrow defective early emb || muscle cell attachment variant
Worm Phenotype (WP)	cell type morphology variant	0.03364	0.8878	Moderately Informative	INHERITED FROM: neuron morphology variant || axon morphology variant || neurite morphology variant || axon branching variant
Worm Phenotype (WP)	early embryonic lethal	0.06083	1.178	Moderately Informative	INHERITED FROM: cleavage furrow defective early emb
Worm Phenotype (WP)	cell division variant	0.4468	1.036	Moderately Informative	INHERITED FROM: cleavage furrow defective || cleavage furrow defective early emb
Worm Phenotype (WP)	axon outgrowth variant	0.0000000000004005	1.565	Informative	DIRECT
Worm Phenotype (WP)	muscle cell physiology variant	0.001525	1.426	Informative	INHERITED FROM: muscle cell attachment variant
Worm Phenotype (WP)	cytokinesis variant emb	0.006877	1.689	Informative	INHERITED FROM: cleavage furrow defective early emb
Worm Phenotype (WP)	cell component localization variant	0.1701	1.388	Informative	INHERITED FROM: mitochondria spacing variant || mitochondria alignment variant
Worm Phenotype (WP)	mitochondria morphology variant	0.2649	1.513	Informative	INHERITED FROM: mitochondria spacing variant || mitochondria alignment variant
Worm Phenotype (WP)	axon morphology variant	0.00000000000003991	1.924	Highly Informative	DIRECT
Worm Phenotype (WP)	muscle cell attachment variant	0.00005944	1.814	Highly Informative	DIRECT
Worm Phenotype (WP)	cleavage furrow defective early emb	0.0005646	2.07	Highly Informative	DIRECT

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Yeast Phenotype (YP)

Highlighted in gray are those with FDR_all>0.001

	YP term	FDR (all)	IC level	SDYP level	Annotation (direct or inherited)
Yeast Phenotype (YP)	cellular processes	0	0.09186	--	DIRECT
Yeast Phenotype (YP)	stress resistance	0	0.1452	--	DIRECT
Yeast Phenotype (YP)	competitive fitness	0	0.1116	--	DIRECT
Yeast Phenotype (YP)	fitness	0	0.1096	--	DIRECT
Yeast Phenotype (YP)	resistance to chemicals	0	0.3202	Least Informative	DIRECT
Yeast Phenotype (YP)	development	0.0004643	1.143	Moderately Informative	DIRECT

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Fly Anatomy (FA)

Highlighted in gray are those with FDR_all>0.001

	FA term	FDR (all)	IC level	SDFA level	Annotation (direct or inherited)
Fly Anatomy (FA)	organism	0	0.06695	--	DIRECT
Fly Anatomy (FA)	organ system	0	0.1823	--	DIRECT
Fly Anatomy (FA)	multicellular structure	0	0.008955	--	DIRECT
Fly Anatomy (FA)	anatomical structure	1	0	--	INHERITED FROM: organism || organ system || multicellular structure
Fly Anatomy (FA)	material anatomical entity	1	0	--	INHERITED FROM: organ system || multicellular structure || organism

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Zebrafish Anatomy (ZA)

Highlighted in gray are those with FDR_all>0.001

	ZA term	FDR (all)	IC level	SDZA level	Annotation (direct or inherited)
Zebrafish Anatomy (ZA)	whole organism	0	0.00147	--	DIRECT
Zebrafish Anatomy (ZA)	anatomical system	0	0.1857	--	DIRECT
Zebrafish Anatomy (ZA)	anatomical group	0	0.1532	--	DIRECT
Zebrafish Anatomy (ZA)	tail bud	0.0000306	2.471	--	DIRECT
Zebrafish Anatomy (ZA)	anatomical structure	1	0	--	INHERITED FROM: anatomical system || anatomical cluster || anatomical group || whole organism || tail bud
Zebrafish Anatomy (ZA)	anatomical cluster	0	0.7389	Least Informative	DIRECT
Zebrafish Anatomy (ZA)	embryonic structure	0.002418	1.626	Informative	INHERITED FROM: tail bud

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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)	anatomical structure	0	0	--	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)	epidermal cell	0	0.2152	--	DIRECT
Plant ANatomical entity (PAN)	epidermis	0	0.2046	--	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)	portion of plant tissue	0	0.1621	--	DIRECT
Plant ANatomical entity (PAN)	collective plant structure	0	0.01555	--	DIRECT
Plant ANatomical entity (PAN)	plant structure	1	0	--	INHERITED FROM: collective plant structure || shoot system || portion of plant tissue || epidermis || epidermal cell || plant cell
Plant ANatomical entity (PAN)	collective plant organ structure	1	0.03998	--	INHERITED FROM: shoot system
Plant structure DEvelopment stage (PDE)	floral organ differentiation stage	0	0.07163	--	DIRECT
Plant structure DEvelopment stage (PDE)	corolla development stage	0	0.1484	--	DIRECT
Plant structure DEvelopment stage (PDE)	flowering stage	0	0.1648	--	DIRECT
Plant structure DEvelopment stage (PDE)	collective plant organ structure development stage	0	0.0282	--	DIRECT
Plant structure DEvelopment stage (PDE)	plant organ development stage	0	0.06127	--	DIRECT
Plant structure DEvelopment stage (PDE)	reproductive shoot system development stage	0	0.0371	--	DIRECT
Plant structure DEvelopment stage (PDE)	collective phyllome structure development stage	0	0.07163	--	DIRECT
Plant structure DEvelopment stage (PDE)	floral organ formation stage	0	0.07163	--	DIRECT
Plant structure DEvelopment stage (PDE)	flower development stage	1	0.05402	--	INHERITED FROM: corolla development stage || flowering stage || floral organ differentiation stage || floral organ formation stage
Plant structure DEvelopment stage (PDE)	shoot system development stage	1	0.02956	--	INHERITED FROM: reproductive shoot system development stage || floral organ formation stage || floral organ differentiation stage || flowering stage || corolla development stage || plant organ development stage

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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)	Phosphoinositide 5-phosphatase	0	2.628	--	DIRECT
Enzyme Commission (EC)	Inositol-polyphosphate 5-phosphatase	0.000000007362	2.753	--	DIRECT
Enzyme Commission (EC)	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase	0.00000005021	2.628	--	DIRECT
Enzyme Commission (EC)	Non-specific serine/threonine protein kinase	0.00000009962	1.639	--	DIRECT
Enzyme Commission (EC)	Transferring phosphorus-containing groups	0.006313	0.7021	--	INHERITED FROM: Protein-serine/threonine kinases || Non-specific serine/threonine protein kinase
Enzyme Commission (EC)	Hydrolases	0.003906	0.4043	Least Informative	INHERITED FROM: Phosphoric monoester hydrolases || Acting on ester bonds || Phosphoinositide 5-phosphatase || Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase || Inositol-polyphosphate 5-phosphatase
Enzyme Commission (EC)	Transferases	0.1977	0.3972	Least Informative	INHERITED FROM: Protein-serine/threonine kinases || Non-specific serine/threonine protein kinase
Enzyme Commission (EC)	Acting on ester bonds	0.000003887	0.8756	Moderately Informative	DIRECT
Enzyme Commission (EC)	Phosphoric monoester hydrolases	0.000000002749	1.338	Informative	DIRECT
Enzyme Commission (EC)	Protein-serine/threonine kinases	0.0000005076	1.437	Informative	DIRECT

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