GON7

GON7 subunit of KEOPS complex, the group of KEOPS complex

Basic information

Region (hg38): 14:93202894-93207065

Previous symbols: [ "C14orf142" ]

Links

ENSG00000170270 ∙ NCBI:84520 ∙ OMIM:617436 ∙ HGNC:20356 ∙ Uniprot:Q9BXV9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Galloway-Mowat syndrome 9	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Neurologic; Renal	31481669
Renal transplant has been described

ClinVar

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

• GON7-related_disorder (4 variants)
• Galloway-Mowat_syndrome (2 variants)
• Galloway-Mowat_syndrome_9 (2 variants)
• not_specified (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. These statistics are base on transcript: NM_000032490.5. 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				2		2
missense			1	1		2
nonsense	1					1
start loss			1			1
frameshift	1					1
splice donor/acceptor (+/-2bp)						0
Total	2	0	2	3	0

Highest pathogenic variant AF is 0.00000410614

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GON7	protein_coding	protein_coding	ENST00000306954	2	4201

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00769	0.565	124724	0	6	124730	0.0000241

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.305	54	60.7	0.890	0.00000297	652
Missense in Polyphen		16	15.36	1.0417		177
Synonymous	0.613	23	27.1	0.850	0.00000140	198
Loss of Function	0.147	3	3.29	0.912	1.39e-7	39

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000291	0.0000291
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000445	0.0000442
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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

• 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_gene_trap: N

Mouse Genome Informatics

• Gene name: Gon7

Gene ontology

• Cellular component: EKC/KEOPS complex;nucleus
• Molecular function: protein binding