SRSF11

serine and arginine rich splicing factor 11, the group of RNA binding motif containing|Serine and arginine rich splicing factors

Basic information

Region (hg38): 1:70205681-70253052

Previous symbols: [ "SFRS11" ]

Links

ENSG00000116754 ∙ NCBI:9295 ∙ OMIM:602010 ∙ HGNC:10782 ∙ Uniprot:Q05519 ∙ 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 SRSF11 gene.

• Inborn genetic diseases (6 variants)
• Autism spectrum disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRSF11 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			6	1		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	1	0

Variants in SRSF11

This is a list of pathogenic ClinVar variants found in the SRSF11 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-70221650-C-T		not specified	Uncertain significance (Jun 21, 2021)
1-70221689-G-T		not specified	Uncertain significance (Jan 07, 2022)
1-70221704-G-A		not specified	Uncertain significance (Jul 05, 2023)
1-70221739-A-G		not specified	Uncertain significance (Sep 21, 2023)
1-70228487-T-C		not specified	Uncertain significance (Jun 12, 2023)
1-70228489-G-C		Autism spectrum disorder	Likely benign (Aug 05, 2022)
1-70228549-G-A		not specified	Uncertain significance (Feb 28, 2024)
1-70234746-C-G		SRSF11-related disorder	Likely benign (Feb 20, 2019)
1-70246889-G-A		not specified	Uncertain significance (Dec 21, 2022)
1-70250028-C-T		not specified	Uncertain significance (Mar 20, 2023)
1-70250757-A-T		SRSF11-related disorder	Uncertain significance (Dec 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRSF11	protein_coding	protein_coding	ENST00000370950	12	47371

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00194	125571	0	2	125573	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.44	159	272	0.584	0.0000151	3104
Missense in Polyphen		8	17.41	0.45951		260
Synonymous	0.0219	97	97.3	0.997	0.00000468	987
Loss of Function	4.46	2	27.1	0.0739	0.00000183	317

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000373	0.0000373
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function in pre-mRNA splicing.
• Pathway: 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: 0.149

Intolerance Scores

• rvis_EVS: -0.41
• rvis_percentile_EVS: 26.23

Haploinsufficiency Scores

• pHI: 0.626
• hipred: Y
• hipred_score: 0.825
• ghis: 0.700

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• 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: Srsf11

Gene ontology

• Biological process: mRNA splicing, via spliceosome;mRNA processing;RNA export from nucleus;mRNA export from nucleus;RNA splicing;mRNA 3'-end processing
• Cellular component: nucleus;nucleoplasm;nuclear speck
• Molecular function: RNA binding;protein binding