DPP10

dipeptidyl peptidase like 10, the group of DASH family|Potassium voltage-gated channel regulatory subunits

Basic information

Region (hg38): 2:114442299-115845780

Links

ENSG00000175497 ∙ NCBI:57628 ∙ OMIM:608209 ∙ HGNC:20823 ∙ Uniprot:Q8N608 ∙ 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 DPP10 gene.

• not_specified (94 variants)
• not_provided (8 variants)
• DPP10-related_disorder (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DPP10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020868.6. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	2	4
missense			94	3	3	100
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	94	5	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DPP10	protein_coding	protein_coding	ENST00000393147	26	1403453

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000587	125733	0	6	125739	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.22	335	404	0.829	0.0000202	5229
Missense in Polyphen		54	108.97	0.49557		1379
Synonymous	0.128	146	148	0.987	0.00000811	1440
Loss of Function	6.13	4	51.4	0.0778	0.00000250	671

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Promotes cell surface expression of the potassium channel KCND2 (PubMed:15454437). Modulates the activity and gating characteristics of the potassium channel KCND2 (PubMed:15454437). Has no dipeptidyl aminopeptidase activity (PubMed:12662155). {ECO:0000269|PubMed:12662155, ECO:0000269|PubMed:15454437, ECO:0000269|PubMed:15671030}.
• Disease: DISEASE: Asthma (ASTHMA) [MIM:600807]: The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. {ECO:0000269|PubMed:14566338, ECO:0000269|PubMed:19237393}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Recessive Scores

• pRec: 0.150

Intolerance Scores

• loftool: 0.352
• rvis_EVS: 0.38
• rvis_percentile_EVS: 75.65

Haploinsufficiency Scores

• pHI: 0.367
• hipred: Y
• hipred_score: 0.699
• ghis: 0.514

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.351

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dpp10
• Phenotype: growth/size/body region phenotype

Gene ontology

• Biological process: proteolysis;protein localization to plasma membrane;regulation of potassium ion transmembrane transport;positive regulation of protein localization to plasma membrane
• Cellular component: plasma membrane;voltage-gated potassium channel complex;membrane
• Molecular function: serine-type peptidase activity;dipeptidyl-peptidase activity;potassium channel regulator activity;ion channel binding