SRRM3

serine/arginine repetitive matrix 3

Basic information

Region (hg38): 7:76201896-76287288

Links

ENSG00000177679 ∙ NCBI:222183 ∙ ∙ HGNC:26729 ∙ Uniprot:A6NNA2 ∙ 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 SRRM3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRRM3 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				1		1
missense			45	1		46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	45	2	0

Variants in SRRM3

This is a list of pathogenic ClinVar variants found in the SRRM3 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-76235132-C-G		not specified	Uncertain significance (Nov 13, 2023)
7-76235167-G-T		not specified	Uncertain significance (May 23, 2023)
7-76235182-T-C		not specified	Uncertain significance (Jan 05, 2022)
7-76235188-C-G		not specified	Uncertain significance (Oct 12, 2021)
7-76235194-A-G		not specified	Uncertain significance (Sep 04, 2024)
7-76235212-G-A		not specified	Uncertain significance (Mar 30, 2024)
7-76235242-G-A		not specified	Uncertain significance (Sep 22, 2023)
7-76248193-C-T		not specified	Uncertain significance (Jun 21, 2023)
7-76248229-G-A		not specified	Uncertain significance (Aug 28, 2024)
7-76259910-G-A		not specified	Uncertain significance (Jun 25, 2024)
7-76259914-A-G		not specified	Uncertain significance (Feb 26, 2025)
7-76259940-G-A		not specified	Uncertain significance (May 16, 2022)
7-76259979-G-C		not specified	Uncertain significance (Jan 29, 2024)
7-76259980-G-T		not specified	Uncertain significance (Jun 11, 2021)
7-76260151-C-T		not specified	Uncertain significance (May 24, 2024)
7-76260179-G-A		not specified	Uncertain significance (Jan 22, 2024)
7-76261387-A-C		not specified	Uncertain significance (Oct 13, 2023)
7-76261402-A-T		not specified	Uncertain significance (Sep 29, 2022)
7-76261575-G-A		not specified	Uncertain significance (Aug 14, 2023)
7-76265386-C-T		not specified	Uncertain significance (Dec 22, 2024)
7-76267275-G-A			Likely benign (Nov 01, 2022)
7-76267287-G-T		not specified	Uncertain significance (Dec 17, 2023)
7-76267304-C-G		not specified	Uncertain significance (Feb 07, 2025)
7-76267353-G-T		not specified	Uncertain significance (Feb 22, 2025)
7-76267370-G-C		not specified	Uncertain significance (Feb 27, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRRM3	protein_coding	protein_coding	ENST00000326382	14	85390

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.209	0.791	124202	0	10	124212	0.0000403

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.24	167	219	0.764	0.0000120	3673
Missense in Polyphen		1	1.3231	0.75579		28
Synonymous	1.38	74	90.8	0.815	0.00000473	1284
Loss of Function	3.11	5	20.0	0.250	0.00000100	313

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000121	0.000121
Ashkenazi Jewish	0.00	0.00
East Asian	0.000114	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.0000271	0.0000267
Middle Eastern	0.000114	0.000111
South Asian	0.00	0.00
Other	0.000172	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in regulating breast cancer cell invasiveness (PubMed:26053433). May be involved in RYBP-mediated breast cancer progression (PubMed:27748911). {ECO:0000269|PubMed:26053433, ECO:0000269|PubMed:27748911}.

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.678
• ghis: 0.561

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.341

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Srrm3

Gene ontology

• Molecular function: mRNA binding