BRMS1L

BRMS1 like transcriptional repressor

Basic information

Region (hg38): 14:35826338-35932325

Previous symbols: [ "BRMS1" ]

Links

ENSG00000100916 ∙ NCBI:84312 ∙ OMIM:618514 ∙ HGNC:20512 ∙ Uniprot:Q5PSV4 ∙ 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 BRMS1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BRMS1L 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in BRMS1L

This is a list of pathogenic ClinVar variants found in the BRMS1L region.

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

Position	Type	Phenotype	Significance	ClinVar
14-35826593-A-G		not specified	Uncertain significance (Apr 07, 2023)
14-35832982-T-C		not specified	Uncertain significance (May 30, 2023)
14-35832998-G-A		not specified	Uncertain significance (Apr 04, 2024)
14-35863930-A-G		not specified	Uncertain significance (Dec 06, 2022)
14-35863942-T-C		not specified	Uncertain significance (Dec 19, 2022)
14-35865750-T-C		not specified	Uncertain significance (Dec 17, 2023)
14-35867942-G-T		not specified	Uncertain significance (Nov 17, 2023)
14-35867971-G-T		not specified	Uncertain significance (Oct 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BRMS1L	protein_coding	protein_coding	ENST00000216807	10	106008

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0578	0.941	125737	0	7	125744	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.15	88	166	0.530	0.00000791	2128
Missense in Polyphen		17	48.428	0.35104		671
Synonymous	1.05	47	57.1	0.824	0.00000279	535
Loss of Function	2.97	6	20.5	0.292	0.00000106	257

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000127	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000454	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the histone deacetylase (HDAC1)-dependent transcriptional repression activity. When overexpressed in lung cancer cell line that lacks p53/TP53 expression, inhibits cell growth. {ECO:0000269|PubMed:15451426}.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.236
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

• pHI: 0.279
• hipred: Y
• hipred_score: 0.685
• ghis: 0.556

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.965

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Brms1l

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;histone deacetylation;regulation of growth
• Cellular component: Sin3-type complex
• Molecular function: histone deacetylase activity;protein binding;histone deacetylase binding