GeneBe

SRMS

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites, the group of SH2 domain containing|PTK6 family tyrosine kinases

Basic information

Region (hg38): 20:63538489-63547749

Previous symbols: [ "C20orf148" ]

Links

ENSG00000125508 ∙ NCBI:6725 ∙ OMIM:617797 ∙ HGNC:11298 ∙ Uniprot:Q9H3Y6 ∙ 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 SRMS gene.

  • not_specified (82 variants)
  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRMS gene is commonly pathogenic or not. These statistics are base on transcript: NM_000080823.4. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
 2
missense
73
clinvar
10
clinvar
 83
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 73 11 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SRMSprotein_codingprotein_codingENST00000217188 86695
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.27e-120.02551254380811255190.000323
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.007523073070.9990.00002183072
Missense in Polyphen107105.141.01761173
Synonymous0.6811341440.9280.00001101022
Loss of Function-0.1121817.51.038.06e-7213

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0009130.000890
Ashkenazi Jewish0.000.00
East Asian0.0007650.000762
Finnish0.0001400.000139
European (Non-Finnish)0.0001680.000159
Middle Eastern0.0007650.000762
South Asian0.001000.000915
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Non-receptor tyrosine-protein kinase which phosphorylates DOK1 on tyrosine residues (PubMed:23822091). Also phosphorylates KHDRBS1/SAM68 and VIM on tyrosine residues (PubMed:29496907). Phosphorylation of KHDRBS1 is EGF-dependent (PubMed:29496907). {ECO:0000269|PubMed:23822091, ECO:0000269|PubMed:29496907}.;
Pathway
Focal Adhesion;Signaling by PTK6;Signal Transduction;PTK6 Down-Regulation;Signaling by Non-Receptor Tyrosine Kinases (Consensus)

Recessive Scores

pRec
0.238

Intolerance Scores

loftool
0.344
rvis_EVS
0.99
rvis_percentile_EVS
90.48

Haploinsufficiency Scores

pHI
0.0534
hipred
N
hipred_score
0.289
ghis
0.414

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.266

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyHighMediumHigh
CancerHighMediumHigh

Mouse Genome Informatics

Gene name
Srms
Phenotype
normal phenotype;

Gene ontology

Biological process
transmembrane receptor protein tyrosine kinase signaling pathway;negative regulation of signal transduction;peptidyl-tyrosine phosphorylation;cell differentiation;peptidyl-tyrosine autophosphorylation
Cellular component
cytoplasm;cytosol;extrinsic component of cytoplasmic side of plasma membrane
Molecular function
protein tyrosine kinase activity;non-membrane spanning protein tyrosine kinase activity;signaling receptor binding;protein binding;ATP binding