SORBS1

sorbin and SH3 domain containing 1

Basic information

Region (hg38): 10:95311771-95561414

Previous symbols: [ "SH3D5" ]

Links

ENSG00000095637

∙ NCBI:10580 ∙ OMIM:605264 ∙ HGNC:14565 ∙ Uniprot:Q9BX66 ∙ 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 SORBS1 gene.

not_specified (189 variants)
not_provided (10 variants)
SORBS1-associated_Hirschsprung_disease (2 variants)
Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SORBS1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001034954.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar	4 clinvar	6
missense			178 clinvar	12 clinvar	2 clinvar	192
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	178	14	6

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SORBS1	protein_coding	protein_coding	ENST00000371247	31	249644

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.53e-12	1.00	125688	0	60	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.50	625	740	0.845	0.0000425	8353
Missense in Polyphen		211	280.7	0.7517		3200
Synonymous	1.22	261	287	0.909	0.0000177	2606
Loss of Function	4.44	33	74.3	0.444	0.00000408	842

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000567	0.000565
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.000280	0.000277
European (Non-Finnish)	0.000250	0.000237
Middle Eastern	0.000218	0.000217
South Asian	0.000198	0.000196
Other	0.000338	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for insulin- stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity). {ECO:0000250|UniProtKB:Q62417}.;
Pathway: Adherens junction - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Integrin-mediated Cell Adhesion;PPAR signaling pathway;Insulin Signaling;Smooth Muscle Contraction;Muscle contraction;Insulin Pathway (Consensus)

Recessive Scores

pRec: 0.162

Intolerance Scores

loftool: 0.809
rvis_EVS: 0.48
rvis_percentile_EVS: 79.05

Haploinsufficiency Scores

pHI: 0.333
hipred: Y
hipred_score: 0.599
ghis: 0.552

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.511

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Sorbs1
Phenotype: hematopoietic system phenotype; immune system phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype;

Gene ontology

Biological process: muscle contraction;cell-matrix adhesion;insulin receptor signaling pathway;cellular response to insulin stimulus;stress fiber assembly;positive regulation of glycogen biosynthetic process;positive regulation of glucose import;positive regulation of insulin receptor signaling pathway;positive regulation of lipid biosynthetic process;focal adhesion assembly;positive regulation of protein localization to plasma membrane
Cellular component: stress fiber;nucleus;centrosome;cytosol;plasma membrane;insulin receptor complex;cell-cell adherens junction;zonula adherens;cell-substrate adherens junction;focal adhesion;nuclear matrix;membrane raft
Molecular function: actin binding;SH3/SH2 adaptor activity;insulin receptor binding;protein binding;cytoskeletal protein binding