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.

• not_specified (74 variants)
• not_provided (3 variants)

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. These statistics are base on transcript: NM_001110199.3. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			73	1		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	75	3	0

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