DAPL1

death associated protein like 1

Basic information

Region (hg38): 2:158795316-158862781

Links

ENSG00000163331 ∙ NCBI:92196 ∙ ∙ HGNC:21490 ∙ Uniprot:A0PJW8 ∙ 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 DAPL1 gene.

• Inborn genetic diseases (14 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAPL1 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in DAPL1

This is a list of pathogenic ClinVar variants found in the DAPL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-158795377-C-A		not specified	Uncertain significance (Oct 27, 2022)
2-158795385-G-A		not specified	Uncertain significance (Dec 13, 2023)
2-158795407-G-A		not specified	Uncertain significance (Sep 13, 2023)
2-158804285-A-T		not specified	Uncertain significance (May 11, 2022)
2-158804288-C-T		not specified	Uncertain significance (Jun 13, 2023)
2-158804359-G-A		not specified	Uncertain significance (Mar 20, 2023)
2-158807078-T-C		not specified	Uncertain significance (Dec 16, 2022)
2-158807089-G-A		not specified	Uncertain significance (Nov 03, 2022)
2-158807092-G-A		not specified	Uncertain significance (Feb 14, 2023)
2-158807105-C-A		not specified	Uncertain significance (Jul 13, 2021)
2-158807740-C-T			Likely benign (Jan 01, 2023)
2-158815712-A-G		not specified	Uncertain significance (Jun 28, 2022)
2-158815771-G-A		not specified	Uncertain significance (Dec 03, 2021)
2-158815775-T-A		not specified	Uncertain significance (Jul 25, 2023)
2-158815811-G-A		not specified	Uncertain significance (May 24, 2023)
2-158826494-C-CATATATATAT			Likely benign (Dec 01, 2022)
2-158826494-C-CATATATATATATATAT			Likely benign (Apr 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAPL1	protein_coding	protein_coding	ENST00000309950	4	67465

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000429	0.241	125633	0	108	125741	0.000430

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.580	65	53.1	1.22	0.00000247	675
Missense in Polyphen		22	14.846	1.4819		184
Synonymous	-0.613	22	18.6	1.18	8.67e-7	206
Loss of Function	-0.447	6	4.93	1.22	2.07e-7	67

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00135	0.00135
Ashkenazi Jewish	0.000508	0.000496
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000228	0.000220
Middle Eastern	0.00	0.00
South Asian	0.000883	0.000850
Other	0.00101	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the early stages of epithelial differentiation or in apoptosis. {ECO:0000250}.

Intolerance Scores

• loftool: 0.772
• rvis_EVS: 0.73
• rvis_percentile_EVS: 85.98

Haploinsufficiency Scores

• pHI: 0.437
• hipred: N
• hipred_score: 0.144
• ghis: 0.385

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0229

Mouse Genome Informatics

• Gene name: Dapl1

Gene ontology

• Biological process: negative regulation of autophagy;cell differentiation;cellular response to amino acid starvation;apoptotic signaling pathway
• Molecular function: death domain binding