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

ENSG00000100650 ∙ NCBI:6430 ∙ OMIM:600914 ∙ HGNC:10787 ∙ Uniprot:Q13243 ∙ 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 SRSF5 gene.

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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	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)
14-69768861-C-A		not specified	Uncertain significance (Aug 12, 2021)
14-69769187-C-T		not specified	Uncertain significance (Aug 22, 2023)
14-69771255-C-T		not specified	Uncertain significance (Jun 07, 2022)
14-69771256-G-A		not specified	Uncertain significance (May 16, 2022)
14-69771282-C-T		not specified	Uncertain significance (Jun 06, 2023)
14-69771322-C-G		not specified	Uncertain significance (Sep 20, 2022)
14-69771324-C-A		not specified	Uncertain significance (Nov 17, 2022)
14-69771358-G-A		not specified	Uncertain significance (Jun 03, 2022)
14-69771367-G-T		not specified	Uncertain significance (Jun 17, 2022)
14-69771378-A-G		not specified	Uncertain significance (Nov 21, 2023)
14-69771407-T-G		not specified	Uncertain significance (Dec 31, 2023)
14-69771420-C-T		not specified	Uncertain significance (Jun 09, 2022)
14-69771456-A-G		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRSF5	protein_coding	protein_coding	ENST00000553521	7	45106

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.693	0.307	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.31	121	169	0.716	0.0000111	1755
Missense in Polyphen		12	49.424	0.2428		603
Synonymous	-2.64	79	54.2	1.46	0.00000268	553
Loss of Function	3.14	3	17.0	0.177	0.00000132	163

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000496	0.000496
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

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

• 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

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

Mouse Genome Informatics

• Gene name: Srsf5

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