SRCIN1

SRC kinase signaling inhibitor 1

Basic information

Region (hg38): 17:38530031-38605952

Links

ENSG00000277363 ∙ NCBI:80725 ∙ OMIM:610786 ∙ HGNC:29506 ∙ Uniprot:Q9C0H9 ∙ 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 SRCIN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRCIN1 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	1	2
missense			64	2		66
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	64	3	2

Variants in SRCIN1

This is a list of pathogenic ClinVar variants found in the SRCIN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-38533385-C-T		not specified	Uncertain significance (Jun 27, 2022)
17-38533413-C-G		not specified	Uncertain significance (Nov 08, 2022)
17-38533419-A-C		not specified	Uncertain significance (Sep 07, 2022)
17-38543828-G-C		not specified	Uncertain significance (Aug 11, 2022)
17-38543834-C-T		not specified	Uncertain significance (Dec 09, 2023)
17-38543882-C-T		not specified	Uncertain significance (Oct 17, 2023)
17-38543893-G-A		not specified	Likely benign (Jan 30, 2024)
17-38543906-C-T		not specified	Uncertain significance (Oct 26, 2021)
17-38543918-G-A		not specified	Uncertain significance (Jan 16, 2024)
17-38543941-T-C		not specified	Uncertain significance (Mar 17, 2023)
17-38543969-T-C		not specified	Uncertain significance (May 15, 2024)
17-38547838-C-T			Benign (Oct 01, 2022)
17-38548576-C-T		not specified	Uncertain significance (Dec 06, 2021)
17-38548610-C-G		not specified	Uncertain significance (Dec 27, 2023)
17-38548637-G-A		not specified	Uncertain significance (Mar 20, 2023)
17-38548660-C-T		not specified	Uncertain significance (Oct 03, 2024)
17-38548677-C-A		not specified	Uncertain significance (Jul 09, 2024)
17-38548697-C-T		not specified	Uncertain significance (Mar 20, 2024)
17-38549106-G-A		not specified	Uncertain significance (Dec 13, 2022)
17-38549186-C-T		not specified	Uncertain significance (Mar 27, 2023)
17-38551171-A-C		not specified	Uncertain significance (May 17, 2024)
17-38551190-G-A		not specified	Uncertain significance (Dec 06, 2024)
17-38551203-C-T		not specified	Uncertain significance (Jun 26, 2024)
17-38551323-G-A		not specified	Uncertain significance (Jan 23, 2024)
17-38551337-G-T		not specified	Uncertain significance (Mar 06, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a negative regulator of SRC by activating CSK which inhibits SRC activity and downstream signaling, leading to impaired cell spreading and migration. Regulates dendritic spine morphology. Involved in calcium-dependent exocytosis. May play a role in neurotransmitter release or synapse maintenance. {ECO:0000269|PubMed:14657239, ECO:0000269|PubMed:17525734, ECO:0000269|PubMed:19146815}.

Intolerance Scores

• rvis_EVS: -0.95
• rvis_percentile_EVS: 9.27

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.752

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.781

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Srcin1
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: exocytosis;regulation of cell migration;substrate adhesion-dependent cell spreading;negative regulation of protein secretion;regulation of dendritic spine morphogenesis;positive regulation of protein tyrosine kinase activity;negative regulation of protein tyrosine kinase activity
• Cellular component: cytoplasm;focal adhesion;postsynaptic density;actin cytoskeleton;lamellipodium;filopodium;axon;dendrite;neuronal cell body;synapse;postsynaptic membrane
• Molecular function: protein binding;protein kinase binding;protein domain specific binding