BCL2L13

BCL2 like 13, the group of BCL2 family

Basic information

Region (hg38): 22:17628855-17730855

Links

ENSG00000099968 ∙ NCBI:23786 ∙ OMIM:619822 ∙ HGNC:17164 ∙ Uniprot:Q9BXK5 ∙ 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 BCL2L13 gene.

• not_specified (78 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL2L13 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015367.4. 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						0
missense			71	7	2	80
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	71	7	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BCL2L13	protein_coding	protein_coding	ENST00000317582	6	101768

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00244	0.983	125730	0	16	125746	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.301	244	258	0.947	0.0000136	3115
Missense in Polyphen		91	93.902	0.9691		1201
Synonymous	-1.02	122	108	1.13	0.00000653	1021
Loss of Function	2.15	7	16.4	0.427	7.92e-7	196

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000277	0.000277
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000544	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.000132	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May promote the activation of caspase-3 and apoptosis.
• Pathway: Legionellosis - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Regulation of Apoptosis by Parathyroid Hormone-related Protein (Consensus)

Intolerance Scores

• loftool: 0.644
• rvis_EVS: 0.51
• rvis_percentile_EVS: 80.2

Haploinsufficiency Scores

• pHI: 0.0591
• hipred: N
• hipred_score: 0.229
• ghis: 0.461

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.793

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bcl2l13

Gene ontology

• Biological process: apoptotic process;activation of cysteine-type endopeptidase activity involved in apoptotic process
• Cellular component: nucleus;mitochondrion;integral component of membrane;mitochondrial membrane
• Molecular function: protein binding;cysteine-type endopeptidase activator activity involved in apoptotic process