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): 1:70205682-70253052

Previous symbols: [ "SFRS11" ]

Links

ENSG00000116754NCBI:9295OMIM:602010HGNC:10782Uniprot:Q05519AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRSF11 gene.

  • not_specified (28 variants)
  • SRSF11-related_disorder (2 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. These statistics are base on transcript: NM_001350605.2. 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
missense
29
clinvar
1
clinvar
30
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 29 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SRSF11protein_codingprotein_codingENST00000370950 1247371
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9980.00194125571021255730.00000796
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.441592720.5840.00001513104
Missense in Polyphen817.410.45951260
Synonymous0.02199797.30.9970.00000468987
Loss of Function4.46227.10.07390.00000183317

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00003730.0000373
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004620.0000462
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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

loftool
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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Srsf11
Phenotype

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