TMBIM1

transmembrane BAX inhibitor motif containing 1, the group of Transmembrane BAX inhibitor motif containing

Basic information

Region (hg38): 2:218274196-218292586

Links

ENSG00000135926 ∙ NCBI:64114 ∙ OMIM:610364 ∙ HGNC:23410 ∙ Uniprot:Q969X1 ∙ 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 TMBIM1 gene.

• Inborn genetic diseases (8 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMBIM1 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			8	1	1	10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	8	1	3

Variants in TMBIM1

This is a list of pathogenic ClinVar variants found in the TMBIM1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-218275534-A-G		not specified	Uncertain significance (Jan 09, 2023)
2-218275565-G-C			Benign (May 14, 2021)
2-218275584-C-T		Moyamoya angiopathy	Likely pathogenic (-)
2-218275662-A-G			Benign (May 14, 2021)
2-218276058-A-G		not specified	Uncertain significance (Dec 18, 2023)
2-218276062-C-T		not specified	Uncertain significance (Oct 13, 2023)
2-218277372-C-G		not specified	Uncertain significance (Jan 19, 2024)
2-218277413-T-C		not specified	Uncertain significance (Aug 13, 2021)
2-218277426-A-C		not specified	Uncertain significance (Jan 16, 2024)
2-218277669-G-C		not specified	Uncertain significance (Jan 30, 2024)
2-218278552-C-A		not specified	Uncertain significance (Sep 13, 2023)
2-218279045-C-T		not specified	Uncertain significance (Dec 11, 2023)
2-218279078-C-T		not specified	Uncertain significance (Jan 16, 2024)
2-218279302-T-C		not specified	Uncertain significance (Aug 28, 2023)
2-218280054-C-T		not specified	Uncertain significance (Jan 26, 2022)
2-218280090-A-G		not specified	Uncertain significance (Jan 30, 2024)
2-218280111-T-C		not specified	Uncertain significance (May 18, 2022)
2-218281940-C-T			Benign (Jul 01, 2022)
2-218282014-G-A			Benign/Likely benign (Sep 01, 2022)
2-218282032-G-C		not specified	Uncertain significance (Aug 08, 2023)
2-218282104-C-T		not specified	Uncertain significance (Jan 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMBIM1	protein_coding	protein_coding	ENST00000444881	11	18395

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.36e-8	0.592	125696	0	52	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.683	153	179	0.856	0.00000990	1985
Missense in Polyphen		50	64.294	0.77767		757
Synonymous	-0.289	73	69.9	1.04	0.00000417	623
Loss of Function	1.16	15	20.7	0.726	0.00000115	210

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000759	0.000747
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000246	0.000231
European (Non-Finnish)	0.000162	0.000158
Middle Eastern	0.0000544	0.0000544
South Asian	0.000245	0.000229
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.
• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.838
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.15

Haploinsufficiency Scores

• pHI: 0.211
• hipred: N
• hipred_score: 0.394
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.689

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmbim1
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: negative regulation of catalytic activity;neutrophil degranulation;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;negative regulation of Fas signaling pathway;negative regulation of protein localization to plasma membrane;positive regulation of blood vessel remodeling
• Cellular component: lysosomal membrane;Golgi apparatus;plasma membrane;endosome membrane;integral component of membrane;specific granule membrane;intracellular membrane-bounded organelle;extracellular exosome
• Molecular function: death receptor binding