SRSF12

serine and arginine rich splicing factor 12, the group of RNA binding motif containing|Serine and arginine rich splicing factors

Basic information

Region (hg38): 6:89095958-89118071

Previous symbols: [ "SFRS13B" ]

Links

ENSG00000154548 ∙ NCBI:135295 ∙ ∙ HGNC:21220 ∙ Uniprot:Q8WXF0 ∙ 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 SRSF12 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRSF12 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in SRSF12

This is a list of pathogenic ClinVar variants found in the SRSF12 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-89098597-C-T		not specified	Uncertain significance (Nov 09, 2021)
6-89098618-T-A		not specified	Uncertain significance (Dec 20, 2023)
6-89098625-G-A		not specified	Uncertain significance (Jun 12, 2023)
6-89098726-T-C		not specified	Uncertain significance (Apr 26, 2023)
6-89098762-T-C		not specified	Uncertain significance (Jun 22, 2021)
6-89098885-C-T		not specified	Uncertain significance (Nov 07, 2022)
6-89098906-C-T		not specified	Uncertain significance (Feb 12, 2024)
6-89098939-T-G		not specified	Uncertain significance (Dec 06, 2021)
6-89105187-G-T		not specified	Uncertain significance (May 27, 2022)
6-89107245-G-A		not specified	Uncertain significance (Jan 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRSF12	protein_coding	protein_coding	ENST00000452027	5	22123

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0331	0.959	124654	0	10	124664	0.0000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.11	115	154	0.749	0.00000933	1652
Missense in Polyphen		21	27.895	0.75283		259
Synonymous	1.14	39	49.2	0.793	0.00000234	527
Loss of Function	2.33	5	14.6	0.343	9.63e-7	163

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000590	0.0000590
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000560	0.0000555
Finnish	0.0000465	0.0000464
European (Non-Finnish)	0.0000357	0.0000354
Middle Eastern	0.0000560	0.0000555
South Asian	0.0000328	0.0000327
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Splicing factor that seems to antagonize SR proteins in pre-mRNA splicing regulation. {ECO:0000269|PubMed:11684676}.

Intolerance Scores

• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.11

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.355
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Srsf12

Gene ontology

• Biological process: spliceosomal tri-snRNP complex assembly;regulation of alternative mRNA splicing, via spliceosome;mRNA 5'-splice site recognition;mRNA cis splicing, via spliceosome;negative regulation of mRNA splicing, via spliceosome
• Cellular component: nucleoplasm;nuclear speck
• Molecular function: RNA binding;RS domain binding;unfolded protein binding