BCL2L10

BCL2 like 10, the group of BCL2 family

Basic information

Region (hg38): 15:52109263-52112775

Links

ENSG00000137875

∙ NCBI:10017 ∙ OMIM:606910 ∙ HGNC:993 ∙ Uniprot:Q9HD36 ∙ 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 BCL2L10 gene.

not_specified (27 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL2L10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020396.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			27 clinvar			27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BCL2L10	protein_coding	protein_coding	ENST00000260442	2	3513

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0108	0.637	125235	0	22	125257	0.0000878

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.308	106	115	0.919	0.00000685	1243
Missense in Polyphen		30	27.609	1.0866		344
Synonymous	-1.49	70	55.9	1.25	0.00000339	452
Loss of Function	0.409	3	3.87	0.775	1.65e-7	48

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000295	0.000295
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000684	0.0000620
Middle Eastern	0.000111	0.000109
South Asian	0.0000690	0.0000654
Other	0.000176	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Promotes cell survival. Suppresses apoptosis induced by BAX but not BAK. {ECO:0000269|PubMed:11278245}.;
Pathway: Busulfan Pathway, Pharmacodynamics;Apoptosis Modulation and Signaling;Regulation of Apoptosis by Parathyroid Hormone-related Protein (Consensus)

Recessive Scores

pRec: 0.136

Haploinsufficiency Scores

pHI: 0.0730
hipred: N
hipred_score: 0.285
ghis: 0.517

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.800

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Bcl2l10
Phenotype: normal phenotype;

Zebrafish Information Network

Gene name: bcl2l10
Affected structure: whole organism
Phenotype tag: abnormal
Phenotype quality: dead

Gene ontology

Biological process: activation of cysteine-type endopeptidase activity involved in apoptotic process;spermatogenesis;female gamete generation;intrinsic apoptotic signaling pathway in response to DNA damage;negative regulation of apoptotic process;extrinsic apoptotic signaling pathway in absence of ligand
Cellular component: mitochondrion;mitochondrial outer membrane;cytosol;membrane;integral component of membrane;nuclear membrane
Molecular function: protein binding;protein homodimerization activity;protein heterodimerization activity;caspase binding