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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 14.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_025248.3	NP_079524.2	19	yes	-
ENST00000617146.5	ENSP00000484715.1	19	yes	-
ENST00000612431.1	ENSP00000478342.1	7	-	-
ENST00000622190.4	ENSP00000479718.1	15	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRCIN1 gene.

• not_specified (154 variants)
• not_provided (3 variants)

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. These statistics are base on transcript: NM_025248.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	2	1	4
missense			155	3		158
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	159	5	1

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

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

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