BLID

BH3-like motif containing, cell death inducer

Basic information

Region (hg38): 11:122115340-122116215

Links

ENSG00000259571 ∙ NCBI:414899 ∙ OMIM:608853 ∙ HGNC:33495 ∙ Uniprot:Q8IZY5 ∙ 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 BLID gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BLID 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in BLID

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

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

Position	Type	Phenotype	Significance	ClinVar
11-122115622-A-G		not specified	Uncertain significance (Mar 21, 2023)
11-122115633-A-C		not specified	Uncertain significance (May 28, 2024)
11-122115651-T-A		not specified	Uncertain significance (Mar 20, 2024)
11-122115672-T-G		not specified	Uncertain significance (Feb 14, 2023)
11-122115693-A-C		not specified	Uncertain significance (Nov 10, 2022)
11-122115732-A-T		not specified	Uncertain significance (Dec 17, 2023)
11-122115777-G-A		not specified	Uncertain significance (Dec 21, 2022)
11-122115792-C-T		not specified	Uncertain significance (Dec 06, 2021)
11-122115810-T-C		not specified	Uncertain significance (May 08, 2024)
11-122115831-C-T		not specified	Uncertain significance (Dec 03, 2021)
11-122115886-G-A		not specified	Uncertain significance (Aug 08, 2022)
11-122115887-T-C		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BLID	protein_coding	protein_coding	ENST00000560104	1	862

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.400	66	57.5	1.15	0.00000285	681
Missense in Polyphen		16	15.369	1.041		174
Synonymous	0.370	20	22.2	0.900	0.00000100	233
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as a proapoptotic molecule through the caspase-dependent mitochondrial pathway of cell death. {ECO:0000269|PubMed:15069058}.

Intolerance Scores

• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Gene ontology

• Biological process: apoptotic process;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
• Cellular component: mitochondrion;cytosol
• Molecular function: molecular_function