SRRM5

serine/arginine repetitive matrix 5

Basic information

Region (hg38): 19:43596617-43614498

Links

ENSG00000226763 ∙ NCBI:100170229 ∙ ∙ HGNC:37248 ∙ Uniprot:B3KS81 ∙ 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 SRRM5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRRM5 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			50	11		61
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	50	11	0

Variants in SRRM5

This is a list of pathogenic ClinVar variants found in the SRRM5 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-43597119-C-A		not specified	Uncertain significance (Mar 30, 2024)
19-43597140-A-C		not specified	Uncertain significance (May 06, 2022)
19-43597148-G-T		not specified	Uncertain significance (May 18, 2022)
19-43597154-C-T		not specified	Likely benign (Aug 11, 2024)
19-43598840-G-A		not specified	Uncertain significance (Apr 01, 2024)
19-43598857-C-T		not specified	Uncertain significance (Dec 10, 2024)
19-43598971-T-G		not specified	Uncertain significance (Dec 06, 2024)
19-43598978-G-A		not specified	Uncertain significance (Mar 03, 2025)
19-43599017-G-A		not specified	Uncertain significance (Jun 16, 2023)
19-43599058-A-G		not specified	Uncertain significance (Mar 01, 2024)
19-43599068-C-T		not specified	Uncertain significance (Aug 17, 2021)
19-43599118-G-A		not specified	Uncertain significance (May 08, 2024)
19-43599144-G-T		not specified	Uncertain significance (Oct 03, 2022)
19-43599145-C-T		not specified	Uncertain significance (Dec 14, 2024)
19-43599154-C-T		not specified	Uncertain significance (Feb 22, 2023)
19-43599175-G-A		not specified	Uncertain significance (Aug 17, 2021)
19-43599236-G-A		not specified	Uncertain significance (Jan 14, 2025)
19-43599244-C-T		not specified	Uncertain significance (Jun 03, 2024)
19-43607698-G-C		not specified	Uncertain significance (Jan 05, 2022)
19-43607744-G-T		not specified	Uncertain significance (May 08, 2024)
19-43607765-C-T		not specified	Uncertain significance (Jun 03, 2024)
19-43607769-G-C		not specified	Uncertain significance (Dec 11, 2024)
19-43607814-G-A		not specified	Uncertain significance (Jul 30, 2024)
19-43607823-G-T			Uncertain significance (Mar 12, 2021)
19-43607838-G-C		not specified	Uncertain significance (Nov 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRRM5	protein_coding	protein_coding	ENST00000607544	1	17881

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.15	351	417	0.841	0.0000237	4696
Missense in Polyphen		57	86.885	0.65604		1076
Synonymous	2.33	112	148	0.756	0.00000836	1385
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.264
• rvis_EVS: 2.97
• rvis_percentile_EVS: 99.19

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.397

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