DAP

death associated protein

Basic information

Region (hg38): 5:10679229-10761234

Links

ENSG00000112977 ∙ NCBI:1611 ∙ OMIM:600954 ∙ HGNC:2672 ∙ Uniprot:P51397 ∙ 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 DAP gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

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

Variants in DAP

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

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

Position	Type	Phenotype	Significance	ClinVar
5-10681071-C-G		not specified	Uncertain significance (Dec 18, 2023)
5-10681150-G-A		not specified	Uncertain significance (Feb 06, 2023)
5-10748202-T-C		not specified	Uncertain significance (Sep 14, 2022)
5-10748210-C-G		not specified	Uncertain significance (Jul 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAP	protein_coding	protein_coding	ENST00000230895	4	82043

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00350	0.638	125739	0	8	125747	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.438	41	49.7	0.825	0.00000261	647
Missense in Polyphen		9	12.122	0.74243		189
Synonymous	0.205	17	18.1	0.939	0.00000110	178
Loss of Function	0.514	4	5.27	0.759	3.08e-7	59

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Negative regulator of autophagy. Involved in mediating interferon-gamma-induced cell death. {ECO:0000269|PubMed:20537536}.

Recessive Scores

• pRec: 0.0740

Intolerance Scores

• loftool: 0.604
• rvis_EVS: 0.26
• rvis_percentile_EVS: 69.83

Haploinsufficiency Scores

• pHI: 0.0287
• hipred: N
• hipred_score: 0.251
• ghis: 0.429

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.408

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dap
• Phenotype: homeostasis/metabolism phenotype; immune system phenotype; skeleton phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: autophagy;apoptotic process;activation of cysteine-type endopeptidase activity involved in apoptotic process;negative regulation of autophagy;negative regulation of NF-kappaB transcription factor activity;cellular response to amino acid starvation;negative regulation of transcription, DNA-templated;apoptotic signaling pathway
• Molecular function: death domain binding