SRF
Basic information
Region (hg38): 6:43171269-43181506
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRF 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 | 5 | |||||
missense | 13 | 17 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | 2 | |||
non coding | 0 | |||||
Total | 0 | 0 | 13 | 8 | 1 |
Variants in SRF
This is a list of pathogenic ClinVar variants found in the SRF region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-43171682-C-T | not specified | Uncertain significance (Aug 12, 2024) | ||
6-43171703-C-T | not specified | Uncertain significance (Dec 26, 2023) | ||
6-43171717-A-T | not specified | Uncertain significance (Mar 14, 2025) | ||
6-43171794-G-A | Likely benign (Dec 31, 2019) | |||
6-43171803-G-T | Likely benign (Dec 31, 2019) | |||
6-43171839-G-C | Likely benign (Jul 11, 2018) | |||
6-43171981-A-G | not specified | Likely benign (Apr 07, 2023) | ||
6-43172005-T-G | not specified | Likely benign (Apr 07, 2023) | ||
6-43172040-C-T | Benign (Dec 31, 2019) | |||
6-43172151-G-A | Likely benign (Dec 31, 2019) | |||
6-43174048-A-T | Likely benign (Mar 01, 2018) | |||
6-43174103-G-C | not specified | Uncertain significance (Dec 03, 2021) | ||
6-43175699-G-T | Likely benign (Aug 18, 2018) | |||
6-43175790-A-G | not specified | Uncertain significance (Oct 17, 2023) | ||
6-43175817-C-T | not specified | Uncertain significance (Jul 12, 2023) | ||
6-43175910-G-C | not specified | Uncertain significance (Jan 17, 2023) | ||
6-43175926-G-A | not specified | Uncertain significance (Aug 28, 2024) | ||
6-43175961-A-C | not specified | Uncertain significance (May 24, 2023) | ||
6-43176622-C-T | not specified | Uncertain significance (Dec 07, 2023) | ||
6-43178326-G-A | not specified | Uncertain significance (Dec 30, 2023) | ||
6-43178355-G-A | not specified | Uncertain significance (Dec 03, 2024) | ||
6-43178419-G-A | not specified | Uncertain significance (Jun 02, 2024) | ||
6-43178493-G-C | Benign (Jun 05, 2018) | |||
6-43178862-T-G | Uncertain significance (Nov 01, 2022) | |||
6-43178873-G-T | Likely benign (Dec 31, 2019) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SRF | protein_coding | protein_coding | ENST00000265354 | 7 | 10207 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.975 | 0.0245 | 125728 | 0 | 1 | 125729 | 0.00000398 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.79 | 131 | 257 | 0.510 | 0.0000137 | 3241 |
Missense in Polyphen | 15 | 32.244 | 0.4652 | 331 | ||
Synonymous | 0.529 | 108 | 115 | 0.937 | 0.00000722 | 1146 |
Loss of Function | 3.45 | 1 | 15.8 | 0.0633 | 7.63e-7 | 179 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: SRF is a transcription factor that binds to the serum response element (SRE), a short sequence of dyad symmetry located 300 bp to the 5' of the site of transcription initiation of some genes (such as FOS). Together with MRTFA transcription coactivator, controls expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. Required for cardiac differentiation and maturation. {ECO:0000250|UniProtKB:Q9JM73}.;
- Pathway
- HTLV-I infection - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Heart Development;SRF and miRs in Smooth Muscle Differentiation and Proliferation;TarBasePathway;miR-targeted genes in muscle cell - TarBase;miRs in Muscle Cell Differentiation;Cell Differentiation - Index expanded;Cell Differentiation - Index;Mesodermal Commitment Pathway;MAPK Signaling Pathway;VEGFA-VEGFR2 Signaling Pathway;PDGFR-beta pathway;Insulin Signaling;Serotonin HTR1 Group and FOS Pathway;Serotonin Receptor 2 and ELK-SRF-GATA4 signaling;Serotonin Receptor 4-6-7 and NR3C Signaling;Signal Transduction;hop pathway in cardiac development;igf-1 signaling pathway;RHO GTPases Activate Formins;pdgf signaling pathway;RHO GTPase Effectors;Signaling by Rho GTPases;Signaling events mediated by HDAC Class II;growth hormone signaling pathway;role of mal in rho-mediated activation of srf;ErbB1 downstream signaling;Coregulation of Androgen receptor activity;p38 signaling mediated by MAPKAP kinases;PDGFR-beta signaling pathway;Trk receptor signaling mediated by the MAPK pathway;PDGFR-alpha signaling pathway;RhoA signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.404
Intolerance Scores
- loftool
- rvis_EVS
- -0.12
- rvis_percentile_EVS
- 44.89
Haploinsufficiency Scores
- pHI
- 0.935
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.511
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Srf
- Phenotype
- growth/size/body region phenotype; endocrine/exocrine gland phenotype; muscle phenotype; craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype; skeleton phenotype; embryo phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; 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); immune system phenotype;
Gene ontology
- Biological process
- branching involved in blood vessel morphogenesis;response to hypoxia;mesoderm formation;neuron migration;trophectodermal cell differentiation;heart looping;morphogenesis of an epithelial sheet;cell migration involved in sprouting angiogenesis;positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation;transcription by RNA polymerase II;cell-matrix adhesion;multicellular organism development;heart development;long-term memory;negative regulation of cell population proliferation;associative learning;response to toxic substance;response to hormone;epithelial structure maintenance;positive regulation of transcription via serum response element binding;hippocampus development;tangential migration from the subventricular zone to the olfactory bulb;actin cytoskeleton organization;regulation of cell adhesion;platelet activation;platelet formation;negative regulation of cell migration;thyroid gland development;neuron projection development;regulation of water loss via skin;response to cytokine;megakaryocyte development;dorsal aorta morphogenesis;mRNA transcription by RNA polymerase II;stress fiber assembly;skin morphogenesis;positive thymic T cell selection;sarcomere organization;positive regulation of cell differentiation;positive regulation of axon extension;positive regulation of transcription by RNA polymerase II;positive regulation of smooth muscle contraction;positive regulation of transcription by glucose;muscle cell cellular homeostasis;thymus development;developmental growth;neuron development;erythrocyte development;positive regulation of DNA-binding transcription factor activity;regulation of smooth muscle cell differentiation;positive regulation of filopodium assembly;cardiac myofibril assembly;angiogenesis involved in wound healing;hematopoietic stem cell differentiation;positive regulation of transcription initiation from RNA polymerase II promoter;long-term synaptic depression;face development;heart trabecula formation;lung morphogenesis;bronchus cartilage development;trachea cartilage development;cardiac vascular smooth muscle cell differentiation;eyelid development in camera-type eye;lung smooth muscle development;bicellular tight junction assembly;cellular response to glucose stimulus;primitive streak formation;epithelial cell-cell adhesion;cellular senescence;negative regulation of amyloid-beta clearance;negative regulation of pri-miRNA transcription by RNA polymerase II;positive regulation of pri-miRNA transcription by RNA polymerase II
- Cellular component
- nuclear chromatin;nucleus;nucleoplasm;cytoplasm
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;transcription factor binding;serum response element binding;chromatin DNA binding;protein homodimerization activity;histone deacetylase binding;sequence-specific DNA binding;transcription regulatory region DNA binding;RNA polymerase II-specific DNA-binding transcription factor binding;primary miRNA binding