HAGH

hydroxyacylglutathione hydrolase, the group of MBL domain containing glyoxalase 2 subfamily

Basic information

Region (hg38): 16:1795620-1827157

Links

ENSG00000063854NCBI:3029OMIM:138760HGNC:4805Uniprot:Q16775AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HAGH gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAGH 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
19
clinvar
2
clinvar
21
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 19 2 0

Variants in HAGH

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

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

Position Type Phenotype Significance ClinVar
16-1809290-C-T not specified Uncertain significance (Dec 22, 2023)3104151
16-1809299-T-C not specified Uncertain significance (Aug 05, 2024)3523861
16-1809303-A-G not specified Uncertain significance (Jul 31, 2024)3523855
16-1809312-T-C not specified Uncertain significance (Sep 01, 2024)3523860
16-1809360-C-T not specified Uncertain significance (Mar 28, 2023)2551912
16-1809791-C-T not specified Uncertain significance (Oct 12, 2024)3523857
16-1809797-T-C not specified Uncertain significance (Jun 22, 2024)3283424
16-1809818-C-T not specified Uncertain significance (Aug 07, 2024)2393519
16-1809827-A-T not specified Uncertain significance (Feb 07, 2023)2481871
16-1816916-G-A not specified Uncertain significance (Apr 01, 2024)2343781
16-1816927-T-C not specified Uncertain significance (Feb 05, 2024)3104149
16-1816940-C-T not specified Uncertain significance (Oct 26, 2022)2320581
16-1816945-C-T not specified Uncertain significance (Jun 02, 2024)2358246
16-1816981-C-T not specified Uncertain significance (Sep 05, 2024)3523858
16-1816985-A-G not specified Uncertain significance (Oct 14, 2023)3104148
16-1817250-C-A not specified Uncertain significance (Nov 12, 2024)3523863
16-1817253-G-A not specified Uncertain significance (Jun 09, 2022)2294411
16-1819189-G-T not specified Uncertain significance (Sep 14, 2022)2312053
16-1819190-G-A not specified Uncertain significance (Apr 17, 2024)3283423
16-1819208-C-T not specified Uncertain significance (Dec 30, 2023)3104146
16-1819898-T-G not specified Uncertain significance (Aug 08, 2023)2617272
16-1819920-T-C not specified Likely benign (Aug 19, 2023)2619534
16-1819952-C-A not specified Uncertain significance (Aug 11, 2024)3523859
16-1819952-C-T not specified Uncertain significance (Nov 20, 2024)3523854
16-1822340-C-T not specified Uncertain significance (Feb 23, 2023)2457206

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
HAGHprotein_codingprotein_codingENST00000397356 931575
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001770.8991257060421257480.000167
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.122331901.230.00001241973
Missense in Polyphen8872.0461.2214728
Synonymous-1.9210784.51.270.00000628638
Loss of Function1.49814.00.5715.89e-7185

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004890.000489
Ashkenazi Jewish0.0007950.000794
East Asian0.000.00
Finnish0.0002130.000185
European (Non-Finnish)0.0001500.000149
Middle Eastern0.000.00
South Asian0.00009800.0000980
Other0.0001640.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Thiolesterase that catalyzes the hydrolysis of S-D- lactoyl-glutathione to form glutathione and D-lactic acid.;
Pathway
Pyruvate metabolism - Homo sapiens (human);Pyruvate Dehydrogenase Complex Deficiency;Primary hyperoxaluria II, PH2;Pyruvate kinase deficiency;Leigh Syndrome;Pyruvate Metabolism;Pyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency);Pyruvaldehyde Degradation;Pyruvate metabolism;Pyruvate metabolism and Citric Acid (TCA) cycle;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;p73 transcription factor network;Pyruvate metabolism;methylglyoxal degradation I (Consensus)

Recessive Scores

pRec
0.301

Intolerance Scores

loftool
0.160
rvis_EVS
-0.11
rvis_percentile_EVS
45.36

Haploinsufficiency Scores

pHI
0.324
hipred
N
hipred_score
0.294
ghis
0.493

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.956

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Hagh
Phenotype

Gene ontology

Biological process
pyruvate metabolic process;glutathione biosynthetic process;methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione
Cellular component
mitochondrial matrix;cytosol
Molecular function
hydroxyacylglutathione hydrolase activity;protein binding;metal ion binding