SH2D5

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			78 clinvar	1 clinvar		79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	80	1	0	81

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 45 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001103161.2	RefSeq	NP_001096631.1	9	MANE Select
ENST00000444387.7	Ensembl	ENSP00000406026.2	9	MANE Select
NM_001103160.2	RefSeq	NP_001096630.1	6	Standard
ENST00000375031.5	Ensembl	ENSP00000364171.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

postsynaptic density
cell junction
postsynaptic membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000444387
Coding exons: 9
Length: 13106
Individuals with no LoFs: 124650
Homozygous LoFs: 1
Heterozygous LoFs: 94
Defined: 124745
p: 0.000381

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.682	240	272	0.884	0.0000184	2649
Missense (PolyPhen)		99	111.28	0.88968		1060
Synonymous	0.406	109	115	0.952	0.00000742	915
Loss of Function	1.25	14	20.0	0.700	0.00000100	207

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.0031	0.0031	notable
European (Non-Finnish)	0.00016	0.00015	rare
South Asian	0.00014	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in synaptic plasticity regulation through the control of Rac-GTP levels. {ECO:0000250|UniProtKB:Q8JZW5}.;

Recessive Scores

pRec: 0.110

Intolerance Scores

LoFtool: 0.269
RVIS EVS: -0.38
RVIS percentile EVS: 28.01

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.179

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium