DPP7

dipeptidyl peptidase 7, the group of DASH family

Basic information

Region (hg38): 9:137110542-137118309

Links

ENSG00000176978 ∙ NCBI:29952 ∙ OMIM:610537 ∙ HGNC:14892 ∙ Uniprot:Q9UHL4 ∙ 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 DPP7 gene.

• not_specified (127 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DPP7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013379.3. 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				3		3
missense			121	5		126
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	121	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DPP7	protein_coding	protein_coding	ENST00000371579	13	4636

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.99e-22	0.000169	125551	0	165	125716	0.000656

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.16	368	310	1.19	0.0000206	3095
Missense in Polyphen		147	113	1.3009		1147
Synonymous	-0.218	147	144	1.02	0.0000107	995
Loss of Function	-0.864	30	25.3	1.19	0.00000132	253

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00242	0.00220
Ashkenazi Jewish	0.00	0.00
East Asian	0.00103	0.000979
Finnish	0.0000480	0.0000462
European (Non-Finnish)	0.000730	0.000660
Middle Eastern	0.00103	0.000979
South Asian	0.000433	0.000425
Other	0.000516	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an important role in the degradation of some oligopeptides. {ECO:0000269|PubMed:15487984}.
• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Intolerance Scores

• loftool: 0.501
• rvis_EVS: 0.25
• rvis_percentile_EVS: 69.57

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.251
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dpp7

Gene ontology

• Biological process: proteolysis;neutrophil degranulation
• Cellular component: extracellular region;Golgi apparatus;cytosol;vesicle;azurophil granule lumen;intracellular membrane-bounded organelle;extracellular exosome
• Molecular function: serine-type peptidase activity;dipeptidyl-peptidase activity