SORBS1

sorbin and SH3 domain containing 1

Basic information

Region (hg38): 10:95311770-95561414

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.

• Inborn genetic diseases (61 variants)
• not provided (10 variants)
• SORBS1-associated Hirschsprung disease (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.

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				1	4	5
missense			56	6	2	64
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding				1		1
Total	0	0	56	8	6

Variants in SORBS1

This is a list of pathogenic ClinVar variants found in the SORBS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-95315104-C-T			Benign (Jul 23, 2018)
10-95315108-T-C			Benign (Jul 23, 2018)
10-95318368-C-T		not specified	Uncertain significance (Dec 27, 2022)
10-95318370-T-C		not specified	Uncertain significance (Aug 12, 2022)
10-95318371-C-A		not specified	Uncertain significance (Jul 13, 2021)
10-95318371-C-T		not specified	Uncertain significance (Oct 04, 2022)
10-95318384-C-T			Likely benign (May 08, 2018)
10-95322002-C-T		not specified	Uncertain significance (Jul 27, 2022)
10-95336540-G-A		not specified	Uncertain significance (Feb 05, 2024)
10-95336576-C-T		not specified	Uncertain significance (Nov 21, 2023)
10-95336577-G-A		not specified	Uncertain significance (Sep 12, 2023)
10-95336610-C-T		not specified	Uncertain significance (Feb 05, 2024)
10-95336628-C-T		not specified	Likely benign (Aug 19, 2021)
10-95336741-G-T		not specified	Uncertain significance (Jun 28, 2023)
10-95336751-C-T		not specified	Uncertain significance (May 31, 2023)
10-95336799-G-A		not specified	Uncertain significance (Aug 08, 2022)
10-95336804-G-A		not specified	Uncertain significance (Jan 19, 2024)
10-95336853-C-T		not specified	Uncertain significance (Apr 20, 2023)
10-95336906-G-A		not specified	Uncertain significance (Oct 06, 2021)
10-95336929-G-C		not specified	Uncertain significance (Sep 06, 2022)
10-95337020-C-G		Malignant tumor of prostate	Uncertain significance (-)
10-95337032-C-T		not specified	Uncertain significance (Apr 07, 2022)
10-95337033-G-A		not specified	Uncertain significance (Aug 16, 2021)
10-95337153-G-C		not specified	Uncertain significance (Jun 02, 2023)
10-95337165-G-A		not specified	Uncertain significance (Dec 17, 2021)

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