DELE1

DAP3 binding cell death enhancer 1

Basic information

Region (hg38): 5:141923855-141942047

Previous symbols: [ "KIAA0141" ]

Links

ENSG00000081791 ∙ NCBI:9812 ∙ OMIM:615741 ∙ HGNC:28969 ∙ Uniprot:Q14154 ∙ 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 DELE1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DELE1 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			52	5		57
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	52	5	0

Variants in DELE1

This is a list of pathogenic ClinVar variants found in the DELE1 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-141923952-T-C		not specified	Uncertain significance (May 10, 2024)
5-141923955-C-T		not specified	Uncertain significance (Nov 18, 2023)
5-141924586-C-T		not specified	Uncertain significance (Nov 15, 2021)
5-141924589-C-T		not specified	Uncertain significance (Oct 03, 2022)
5-141924623-C-G		not specified	Uncertain significance (Nov 16, 2022)
5-141924629-C-A		not specified	Uncertain significance (Feb 12, 2024)
5-141924691-G-A		not specified	Uncertain significance (Dec 16, 2023)
5-141925414-G-A		not specified	Uncertain significance (Feb 27, 2025)
5-141925421-A-C		not specified	Uncertain significance (Feb 11, 2025)
5-141925433-C-T		not specified	Uncertain significance (Oct 10, 2023)
5-141925438-G-A		not specified	Likely benign (Mar 31, 2024)
5-141925438-G-T		not specified	Uncertain significance (Aug 13, 2021)
5-141925477-T-C		not specified	Uncertain significance (Dec 22, 2023)
5-141925489-C-T		not specified	Likely benign (Jan 23, 2025)
5-141928181-G-T		not specified	Uncertain significance (Oct 12, 2022)
5-141928184-A-G		not specified	Uncertain significance (Nov 10, 2024)
5-141928198-C-A		not specified	Uncertain significance (Sep 10, 2024)
5-141928254-C-T		not specified	Uncertain significance (Nov 01, 2022)
5-141928262-C-T		not specified	Uncertain significance (Dec 12, 2023)
5-141929587-C-G		not specified	Uncertain significance (May 26, 2022)
5-141929624-C-T		not specified	Uncertain significance (Apr 12, 2023)
5-141929651-G-C		not specified	Uncertain significance (Nov 03, 2023)
5-141929669-C-G		not specified	Uncertain significance (Apr 22, 2022)
5-141929672-C-T		not specified	Uncertain significance (Apr 22, 2022)
5-141929717-G-A		not specified	Uncertain significance (Jan 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DELE1	protein_coding	protein_coding	ENST00000432126	12	18240

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.22e-17	0.0104	125552	0	196	125748	0.000780

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.717	263	298	0.883	0.0000164	3285
Missense in Polyphen		66	83.848	0.78714		1027
Synonymous	-0.519	132	125	1.06	0.00000722	1090
Loss of Function	0.293	27	28.7	0.941	0.00000149	298

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00392	0.00391
Ashkenazi Jewish	0.000914	0.000893
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000654	0.000651
Middle Eastern	0.000109	0.000109
South Asian	0.000230	0.000229
Other	0.00135	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation. {ECO:0000269|PubMed:20563667}.

Intolerance Scores

• rvis_EVS: 0.69
• rvis_percentile_EVS: 85.24

Haploinsufficiency Scores

• pHI: 0.0481
• hipred: N
• hipred_score: 0.123
• ghis: 0.432

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Dele1

Gene ontology

• Biological process: extrinsic apoptotic signaling pathway via death domain receptors;regulation of cysteine-type endopeptidase activity involved in apoptotic process
• Cellular component: mitochondrion
• Molecular function: protein binding