CPQ

carboxypeptidase Q, the group of M14 carboxypeptidases

Basic information

Region (hg38): 8:96645241-97149654

Links

ENSG00000104324 ∙ NCBI:10404 ∙ OMIM:618754 ∙ HGNC:16910 ∙ Uniprot:Q9Y646 ∙ 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 CPQ gene.

• Inborn genetic diseases (20 variants)
• not provided (8 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CPQ 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					2	2
missense			20		4	24
nonsense				1		1
start loss				1		1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	20	2	6

Variants in CPQ

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

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

Position	Type	Phenotype	Significance	ClinVar
8-96784889-G-GA		not specified	Likely benign (Oct 27, 2016)
8-96784916-G-T		not specified	Uncertain significance (Sep 09, 2021)
8-96785005-A-G		not specified	Uncertain significance (Nov 10, 2022)
8-96785032-T-A		not specified	Uncertain significance (Mar 02, 2023)
8-96785045-A-G		not specified	Uncertain significance (Dec 28, 2022)
8-96785059-T-TGTTTA			Likely benign (Jan 03, 2018)
8-96785082-G-A		not specified	Uncertain significance (May 11, 2022)
8-96785171-T-G			Benign (May 24, 2018)
8-96785205-T-A		not specified	Uncertain significance (Feb 26, 2024)
8-96785243-G-C		not specified	Uncertain significance (Apr 24, 2023)
8-96785279-C-T		not specified	Uncertain significance (Aug 14, 2023)
8-96785288-G-A		not specified	Uncertain significance (Dec 18, 2023)
8-96785310-G-A			Benign (Dec 31, 2019)
8-96785313-T-C		not specified	Uncertain significance (May 03, 2023)
8-96785338-T-C			Benign (Aug 14, 2018)
8-96834991-T-C			Benign (Aug 14, 2018)
8-96835000-C-T		not specified	Uncertain significance (Feb 15, 2023)
8-96835072-T-A		not specified	Uncertain significance (Sep 01, 2021)
8-96835084-G-A		not specified	Uncertain significance (Jun 08, 2022)
8-96835111-C-T		not specified	Uncertain significance (Jan 02, 2024)
8-96835149-A-G			Benign (Dec 31, 2019)
8-96835158-G-A		not specified	Uncertain significance (Jan 04, 2022)
8-96879854-G-A		not specified	Uncertain significance (Jun 30, 2022)
8-97029408-C-T		not specified	Uncertain significance (Jun 06, 2023)
8-97029426-C-A			Benign (Nov 05, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CPQ	protein_coding	protein_coding	ENST00000220763	7	504428

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.32e-14	0.0124	125538	0	210	125748	0.000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.700	221	252	0.876	0.0000122	3064
Missense in Polyphen		53	72.164	0.73444		838
Synonymous	0.202	92	94.5	0.974	0.00000496	943
Loss of Function	-0.118	21	20.4	1.03	0.00000109	237

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00195	0.00194
Ashkenazi Jewish	0.00	0.00
East Asian	0.00541	0.00540
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000452	0.000431
Middle Eastern	0.00541	0.00540
South Asian	0.000263	0.000261
Other	0.000506	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in the liberation of thyroxine hormone from its thyroglobulin (Tg) precursor.

Intolerance Scores

• rvis_EVS: 0.87
• rvis_percentile_EVS: 88.8

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.197
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cpq

Gene ontology

• Biological process: proteolysis;thyroid hormone generation;tissue regeneration;peptide catabolic process
• Cellular component: extracellular space;cytoplasm;lysosome;endoplasmic reticulum;Golgi apparatus;intracellular membrane-bounded organelle;extracellular exosome
• Molecular function: carboxypeptidase activity;protein homodimerization activity;metal ion binding;metallodipeptidase activity