SORBS3

sorbin and SH3 domain containing 3

Basic information

Region (hg38): 8:22544985-22575788

Links

ENSG00000120896 ∙ NCBI:10174 ∙ OMIM:610795 ∙ HGNC:30907 ∙ Uniprot:O60504 ∙ 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 SORBS3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SORBS3 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				4	3	7
missense			59	9	6	74
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	60	13	9

Variants in SORBS3

This is a list of pathogenic ClinVar variants found in the SORBS3 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-22554523-G-A		not specified	Uncertain significance (Jun 29, 2023)
8-22554531-C-T		not specified	Uncertain significance (Mar 08, 2024)
8-22554549-G-A		not specified	Uncertain significance (Nov 05, 2021)
8-22554551-C-T			Likely benign (Jul 27, 2018)
8-22554552-G-A		not specified	Uncertain significance (Aug 09, 2021)
8-22554580-A-G		not specified	Uncertain significance (Jun 07, 2023)
8-22554583-T-A		not specified	Uncertain significance (Jan 09, 2024)
8-22554589-C-T		not specified	Uncertain significance (Jul 12, 2023)
8-22554594-T-C		not specified	Uncertain significance (Jan 24, 2024)
8-22554598-G-C		not specified	Uncertain significance (Sep 25, 2023)
8-22554875-C-T			Likely benign (Jun 19, 2018)
8-22554913-C-G		not specified	Uncertain significance (Apr 13, 2022)
8-22554914-G-C		not specified	Uncertain significance (Jun 03, 2022)
8-22554960-G-A		not specified	Likely benign (Mar 14, 2023)
8-22556766-G-A		not specified	Uncertain significance (May 21, 2024)
8-22556773-G-T		not specified	Uncertain significance (Jan 02, 2024)
8-22556826-G-A		not specified	Uncertain significance (Mar 17, 2023)
8-22556835-G-A		not specified	Uncertain significance (Dec 28, 2023)
8-22556844-G-A		not specified	Uncertain significance (Jul 09, 2021)
8-22556872-C-T			Likely benign (Jun 27, 2018)
8-22558129-A-G		not specified	Uncertain significance (May 09, 2022)
8-22558132-G-A		not specified	Uncertain significance (May 11, 2022)
8-22558171-C-G		not specified	Uncertain significance (Apr 26, 2023)
8-22558180-C-T		not specified	Uncertain significance (Dec 21, 2022)
8-22558181-G-A		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SORBS3	protein_coding	protein_coding	ENST00000240123	20	30803

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.23e-12	0.993	125650	0	98	125748	0.000390

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.924	476	423	1.13	0.0000264	4299
Missense in Polyphen		164	168.72	0.97203		1724
Synonymous	-0.216	172	168	1.02	0.0000108	1362
Loss of Function	2.61	25	43.6	0.574	0.00000232	446

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000490	0.000482
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00116	0.00116
European (Non-Finnish)	0.000405	0.000387
Middle Eastern	0.000272	0.000272
South Asian	0.000398	0.000392
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its third SH3 domain.
• Pathway: Smooth Muscle Contraction;Muscle contraction (Consensus)

Recessive Scores

• pRec: 0.163

Intolerance Scores

• loftool: 0.905
• rvis_EVS: 0.26
• rvis_percentile_EVS: 69.72

Haploinsufficiency Scores

• pHI: 0.210
• hipred: Y
• hipred_score: 0.640
• ghis: 0.547

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.906

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sorbs3
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: sorbs3
• Affected structure: dorsal root ganglion
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;muscle contraction;actin filament organization;cell adhesion;cell-substrate adhesion;positive regulation of MAPK cascade;positive regulation of cytoskeleton organization;positive regulation of stress fiber assembly
• Cellular component: nucleus;cytosol;cytoskeleton;focal adhesion
• Molecular function: structural constituent of cytoskeleton;protein binding;transcription factor binding;vinculin binding