GGT7

gamma-glutamyltransferase 7, the group of Gamma-glutamyltransferases

Basic information

Region (hg38): 20:34844719-34872856

Previous symbols: [ "GGTL5", "GGTL3" ]

Links

ENSG00000131067 ∙ NCBI:2686 ∙ OMIM:612342 ∙ HGNC:4259 ∙ Uniprot:Q9UJ14 ∙ 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 GGT7 gene.

• Inborn genetic diseases (23 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GGT7 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			22	1		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	1	0

Variants in GGT7

This is a list of pathogenic ClinVar variants found in the GGT7 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-34845389-T-C		not specified	Uncertain significance (Mar 07, 2024)
20-34845402-G-C		not specified	Uncertain significance (Nov 27, 2023)
20-34845413-A-G		not specified	Uncertain significance (Jan 04, 2024)
20-34845450-C-T		not specified	Uncertain significance (Oct 27, 2023)
20-34850032-C-T		not specified	Uncertain significance (Aug 17, 2021)
20-34851242-C-T		not specified	Uncertain significance (Sep 26, 2022)
20-34851269-C-T		not specified	Uncertain significance (Mar 29, 2022)
20-34851271-C-G		not specified	Uncertain significance (Nov 29, 2023)
20-34851277-G-C		not specified	Uncertain significance (Dec 01, 2022)
20-34851278-C-T		not specified	Uncertain significance (Oct 04, 2022)
20-34851304-G-A		not specified	Uncertain significance (Oct 04, 2022)
20-34851310-C-T		not specified	Uncertain significance (Dec 21, 2023)
20-34852184-G-A		not specified	Uncertain significance (Feb 08, 2023)
20-34852404-A-G		not specified	Uncertain significance (Jan 31, 2024)
20-34852444-T-C		not specified	Uncertain significance (Mar 16, 2022)
20-34854570-T-G		not specified	Uncertain significance (Feb 23, 2023)
20-34854574-C-T		not specified	Likely benign (Aug 02, 2021)
20-34854801-C-T		not specified	Uncertain significance (Apr 12, 2022)
20-34854824-C-T		not specified	Uncertain significance (Nov 27, 2023)
20-34854906-G-T		not specified	Uncertain significance (Jun 24, 2022)
20-34856808-C-T		not specified	Uncertain significance (May 31, 2022)
20-34856815-C-T		not specified	Uncertain significance (Jun 01, 2023)
20-34856835-A-G		not specified	Uncertain significance (Jul 14, 2023)
20-34859462-G-A		not specified	Uncertain significance (Oct 02, 2023)
20-34859492-G-A		not specified	Uncertain significance (Dec 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GGT7	protein_coding	protein_coding	ENST00000336431	15	28141

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.984	0.0161	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.30	278	409	0.679	0.0000257	4198
Missense in Polyphen		73	133.22	0.54797		1410
Synonymous	1.21	166	187	0.887	0.0000132	1440
Loss of Function	4.42	4	30.2	0.132	0.00000170	310

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000154	0.000154
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.0000576	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000358	0.0000352
Middle Eastern	0.0000576	0.0000544
South Asian	0.0000686	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cleaves glutathione conjugates. {ECO:0000250}.
• Pathway: Glutathione metabolism - Homo sapiens (human);Taurine and hypotaurine metabolism - Homo sapiens (human);Glutathione conjugation;Phase II - Conjugation of compounds;Biological oxidations;Metabolism;Glutathione synthesis and recycling;Aflatoxin activation and detoxification (Consensus)

Recessive Scores

• pRec: 0.344

Intolerance Scores

• loftool: 0.201
• rvis_EVS: -0.64
• rvis_percentile_EVS: 16.53

Haploinsufficiency Scores

• pHI: 0.339
• hipred: Y
• hipred_score: 0.662
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.799

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ggt7

Gene ontology

• Biological process: translation;proteolysis;cellular amino acid metabolic process;glutamate metabolic process;glutathione metabolic process;glutathione biosynthetic process;glutathione catabolic process;cysteine biosynthetic process;leukotriene D4 biosynthetic process;negative regulation of response to oxidative stress
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: peptidyltransferase activity;protein binding;glutathione hydrolase activity;hypoglycin A gamma-glutamyl transpeptidase activity;leukotriene C4 gamma-glutamyl transferase activity