DAPP1

dual adaptor of phosphotyrosine and 3-phosphoinositides 1, the group of Pleckstrin homology domain containing|SH2 domain containing

Basic information

Region (hg38): 4:99816827-99870190

Links

ENSG00000070190 ∙ NCBI:27071 ∙ OMIM:605768 ∙ HGNC:16500 ∙ Uniprot:Q9UN19 ∙ 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 DAPP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAPP1 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in DAPP1

This is a list of pathogenic ClinVar variants found in the DAPP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-99816948-G-C		not specified	Uncertain significance (Nov 10, 2021)
4-99816956-G-A		not specified	Uncertain significance (May 12, 2024)
4-99835633-G-A		not specified	Uncertain significance (Feb 06, 2024)
4-99835650-T-A		not specified	Uncertain significance (Feb 28, 2023)
4-99835723-G-A		not specified	Uncertain significance (Dec 28, 2022)
4-99840363-C-T		not specified	Uncertain significance (Oct 08, 2024)
4-99840374-G-A		DAPP1-related condition	Uncertain significance (Apr 23, 2024)
4-99853296-C-T		not specified	Uncertain significance (Dec 20, 2023)
4-99861582-G-C		not specified	Uncertain significance (Nov 09, 2024)
4-99863812-G-A		not specified	Uncertain significance (Nov 13, 2023)
4-99866077-G-A		not specified	Uncertain significance (Nov 13, 2023)
4-99866111-G-A		not specified	Uncertain significance (Sep 26, 2023)
4-99868122-A-C		not specified	Uncertain significance (Apr 06, 2022)
4-99868132-C-G		not specified	Uncertain significance (Dec 03, 2024)
4-99868165-C-T		not specified	Uncertain significance (May 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAPP1	protein_coding	protein_coding	ENST00000512369	9	53322

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.172	0.826	124633	0	6	124639	0.0000241

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.87	80	143	0.560	0.00000762	1802
Missense in Polyphen		16	46.807	0.34183		598
Synonymous	0.114	50	51.0	0.980	0.00000273	514
Loss of Function	2.63	4	15.0	0.267	6.33e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000580	0.0000580
Ashkenazi Jewish	0.000102	0.0000994
East Asian	0.0000557	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000180	0.0000177
Middle Eastern	0.0000557	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a B-cell-associated adapter that regulates B- cell antigen receptor (BCR)-signaling downstream of PI3K. {ECO:0000269|PubMed:10770799}.
• Pathway: B cell receptor signaling pathway - Homo sapiens (human);B Cell Receptor Signaling Pathway;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;B cell receptor signaling;Signaling by the B Cell Receptor (BCR);Immune System;Adaptive Immune System;BCR;EGFR1;BCR signaling pathway;Class I PI3K signaling events (Consensus)

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.530
• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.79

Haploinsufficiency Scores

• pHI: 0.183
• hipred: Y
• hipred_score: 0.765
• ghis: 0.592

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.487

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dapp1
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: protein dephosphorylation;signal transduction
• Cellular component: cytoplasm;cytosol;plasma membrane;membrane
• Molecular function: protein binding;phospholipid binding;phosphatidylinositol-3,4,5-trisphosphate binding;PDZ domain binding;phosphatidylinositol-3,4-bisphosphate binding