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SRSF5

serine and arginine rich splicing factor 5, the group of RNA binding motif containing|Serine and arginine rich splicing factors

Basic information

Region (hg38): 14:69726899-69772005

Previous symbols: [ "SFRS5" ]

Links

ENSG00000100650NCBI:6430OMIM:600914HGNC:10787Uniprot:Q13243AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRSF5 gene.

  • Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRSF5 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
0
missense
9
clinvar
9
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 9 0 0

Variants in SRSF5

This is a list of pathogenic ClinVar variants found in the SRSF5 region.

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

Position Type Phenotype Significance ClinVar
14-69768841-G-A not specified Uncertain significance (Mar 01, 2024)3170271
14-69768861-C-A not specified Uncertain significance (Aug 12, 2021)3170272
14-69769187-C-T not specified Uncertain significance (Aug 22, 2023)2621145
14-69771255-C-T not specified Uncertain significance (Jun 07, 2022)3170273
14-69771256-G-A not specified Uncertain significance (May 16, 2022)2289959
14-69771282-C-T not specified Uncertain significance (Jun 06, 2023)2507835
14-69771322-C-G not specified Uncertain significance (Sep 20, 2022)2312667
14-69771324-C-A not specified Uncertain significance (Nov 17, 2022)2326222
14-69771358-G-A not specified Uncertain significance (Jun 03, 2022)2293827
14-69771367-G-T not specified Uncertain significance (Jun 17, 2022)2295601
14-69771378-A-G not specified Uncertain significance (Nov 21, 2023)3170275
14-69771407-T-G not specified Uncertain significance (Dec 31, 2023)3170276
14-69771420-C-T not specified Uncertain significance (Jun 09, 2022)2294914
14-69771456-A-G not specified Uncertain significance (Oct 26, 2022)2211899

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SRSF5protein_codingprotein_codingENST00000553521 745106
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.6930.307125739091257480.0000358
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.311211690.7160.00001111755
Missense in Polyphen1249.4240.2428603
Synonymous-2.647954.21.460.00000268553
Loss of Function3.14317.00.1770.00000132163

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.0004960.000496
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00002640.0000264
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays a role in constitutive splicing and can modulate the selection of alternative splice sites.;
Pathway
Spliceosome - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);mRNA Processing;Gene expression (Transcription);RNA Polymerase II Transcription;Metabolism of RNA;Cleavage of Growing Transcript in the Termination Region ;RNA Polymerase II Transcription Termination;mRNA Splicing - Major Pathway;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA Splicing;mRNA 3,-end processing;Transport of Mature Transcript to Cytoplasm;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

pRec
0.113

Intolerance Scores

loftool
rvis_EVS
-0.49
rvis_percentile_EVS
22.09

Haploinsufficiency Scores

pHI
0.373
hipred
Y
hipred_score
0.745
ghis
0.653

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.539

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Srsf5
Phenotype

Zebrafish Information Network

Gene name
srsf5a
Affected structure
caudal fin
Phenotype tag
abnormal
Phenotype quality
bent

Gene ontology

Biological process
regulation of alternative mRNA splicing, via spliceosome;mRNA splicing, via spliceosome;mRNA splice site selection;mRNA processing;RNA export from nucleus;mRNA export from nucleus;mRNA 3'-end processing;cellular response to insulin stimulus;positive regulation of RNA splicing;mRNA cis splicing, via spliceosome;regulation of cell cycle;liver regeneration
Cellular component
nucleus;nucleoplasm;nucleolus;cytosol;nuclear speck
Molecular function
RNA binding;protein binding;protein kinase B binding