GON7

GON7 subunit of KEOPS complex, the group of KEOPS complex

Basic information

Region (hg38): 14:93202894-93207065

Previous symbols: [ "C14orf142" ]

Links

ENSG00000170270NCBI:84520OMIM:617436HGNC:20356Uniprot:Q9BXV9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Galloway-Mowat syndrome 9ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingCraniofacial; Neurologic; Renal31481669
Renal transplant has been described

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GON7 gene.

  • Galloway-Mowat syndrome 9 (1 variants)
  • Galloway-Mowat syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GON7 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
1
clinvar
1
nonsense
1
clinvar
1
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 1 0 1 0 0

Variants in GON7

This is a list of pathogenic ClinVar variants found in the GON7 region.

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

Position Type Phenotype Significance ClinVar
14-93203694-C-T GON7-related disorder Likely benign (Dec 19, 2022)3054806
14-93203789-A-T GON7-related disorder Likely benign (Jul 26, 2021)3061666
14-93206890-G-A not specified Uncertain significance (Jul 13, 2021)2236484
14-93206951-A-G GON7-related disorder Likely benign (Mar 31, 2022)3031784
14-93206994-T-C GON7-related disorder Likely benign (Nov 22, 2023)3039752
14-93207017-G-T Galloway-Mowat syndrome 9 • Galloway-Mowat syndrome Pathogenic (-)1321193
14-93207018-T-TA Galloway-Mowat syndrome 9 Pathogenic (Nov 09, 2021)1321194
14-93207037-T-C Galloway-Mowat syndrome Uncertain significance (Jan 23, 2023)3779704

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GON7protein_codingprotein_codingENST00000306954 24201
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.007690.565124724061247300.0000241
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3055460.70.8900.00000297652
Missense in Polyphen1615.361.0417177
Synonymous0.6132327.10.8500.00000140198
Loss of Function0.14733.290.9121.39e-739

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002910.0000291
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00004450.0000442
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. GON7 likely plays a supporting role to the catalytic subunit OSGEP in the complex. {ECO:0000250|UniProtKB:P46984, ECO:0000305|PubMed:27903914}.;

Intolerance Scores

loftool
rvis_EVS
0.04
rvis_percentile_EVS
56.25

Haploinsufficiency Scores

pHI
0.116
hipred
N
hipred_score
0.204
ghis
0.646

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Gon7
Phenotype

Gene ontology

Biological process
Cellular component
EKC/KEOPS complex;nucleus
Molecular function
protein binding