SH3BGRL

SH3 domain binding glutamate rich protein like

Basic information

Region (hg38): X:81202102-81298547

Links

ENSG00000131171 ∙ NCBI:6451 ∙ OMIM:300190 ∙ HGNC:10823 ∙ Uniprot:O75368 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SH3BGRL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SH3BGRL gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in SH3BGRL

This is a list of pathogenic ClinVar variants found in the SH3BGRL region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-81276991-A-G		not specified	Uncertain significance (Feb 05, 2025)
X-81277117-C-T		not specified	Uncertain significance (Aug 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SH3BGRL	protein_coding	protein_coding	ENST00000373212	4	96605

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.301	0.629	108059	1	0	108060	0.00000463

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.528	29	38.2	0.759	0.00000278	745
Missense in Polyphen		9	13.262	0.67864		286
Synonymous	-1.13	18	12.8	1.40	8.86e-7	210
Loss of Function	1.39	1	3.99	0.251	3.03e-7	74

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.0000672	0.0000441
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: EGFR1 (Consensus)

Recessive Scores

• pRec: 0.142

Intolerance Scores

• loftool: 0.362
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.63

Haploinsufficiency Scores

• pHI: 0.764
• hipred: N
• hipred_score: 0.400
• ghis: 0.601

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sh3bgrl

Gene ontology

• Biological process: positive regulation of signal transduction
• Cellular component: extracellular space;nucleus;cytoplasm;extracellular exosome
• Molecular function: SH3/SH2 adaptor activity;SH3 domain binding