BMERB1

bMERB domain containing 1

Basic information

Region (hg38): 16:15434475-15625028

Previous symbols: [ "C16orf45" ]

Links

ENSG00000166780 ∙ NCBI:89927 ∙ ∙ HGNC:19213 ∙ Uniprot:Q96MC5 ∙ 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 BMERB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BMERB1 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			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in BMERB1

This is a list of pathogenic ClinVar variants found in the BMERB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-15567984-A-G		not specified	Uncertain significance (Nov 15, 2021)
16-15586774-C-T		not specified	Uncertain significance (Jul 13, 2021)
16-15596718-G-A		not specified	Uncertain significance (Aug 15, 2023)
16-15596788-T-C		not specified	Uncertain significance (Mar 02, 2023)
16-15596854-A-G		not specified	Likely benign (Feb 02, 2024)
16-15596880-T-C		not specified	Uncertain significance (Jun 09, 2022)
16-15596917-C-T		not specified	Uncertain significance (Sep 28, 2022)
16-15596931-A-G		not specified	Uncertain significance (Mar 18, 2024)
16-15598974-C-T		not specified	Uncertain significance (Sep 18, 2023)
16-15598986-C-T		not specified	Likely benign (Jun 24, 2022)
16-15598994-C-T		not specified	Uncertain significance (Mar 16, 2024)
16-15600469-G-A		not specified	Uncertain significance (Sep 14, 2022)
16-15600490-C-T		not specified	Uncertain significance (Dec 27, 2023)
16-15600491-G-A		not specified	Uncertain significance (Jan 27, 2022)
16-15600502-G-A		not specified	Uncertain significance (Dec 11, 2023)
16-15600520-T-C		not specified	Likely benign (Jun 29, 2023)
16-15600535-C-T		not specified	Uncertain significance (Mar 14, 2023)
16-15602020-C-T		not specified	Uncertain significance (Jan 06, 2023)
16-15602050-G-C		not specified	Uncertain significance (Aug 17, 2022)
16-15602076-G-A		not specified	Uncertain significance (May 28, 2024)
16-15602128-A-C		not specified	Uncertain significance (Mar 22, 2024)
16-15602160-C-T		not specified	Uncertain significance (Jul 08, 2022)
16-15604242-T-C		not specified	Uncertain significance (Nov 07, 2023)
16-15604359-T-G		not specified	Uncertain significance (May 03, 2023)
16-15604366-C-A		not specified	Uncertain significance (May 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BMERB1	protein_coding	protein_coding	ENST00000300006	6	190734

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.137	0.845	125713	0	33	125746	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.408	105	117	0.894	0.00000671	1342
Missense in Polyphen		31	38.996	0.79496		394
Synonymous	-0.624	50	44.7	1.12	0.00000252	367
Loss of Function	2.03	3	9.91	0.303	4.16e-7	140

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00157	0.00152
Finnish	0.00	0.00
European (Non-Finnish)	0.0000359	0.0000352
Middle Eastern	0.00157	0.00152
South Asian	0.00	0.00
Other	0.000168	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.362
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.51

Haploinsufficiency Scores

• pHI: 0.322
• hipred: Y
• hipred_score: 0.506
• ghis: 0.614

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 2900011O08Rik

Gene ontology

• Biological process: negative regulation of microtubule depolymerization;negative regulation of cell motility involved in cerebral cortex radial glia guided migration
• Cellular component: microtubule cytoskeleton
• Molecular function: protein binding