GPATCH8

G-patch domain containing 8, the group of G-patch domain containing

Basic information

Region (hg38): 17:44395281-44503430

Previous symbols: [ "KIAA0553", "GPATC8" ]

Links

ENSG00000186566 ∙ NCBI:23131 ∙ OMIM:614396 ∙ HGNC:29066 ∙ Uniprot:Q9UKJ3 ∙ 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 GPATCH8 gene.

• not_specified (166 variants)
• not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPATCH8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001002909.4. 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				1		1
missense			163	6	2	171
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	163	7	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPATCH8	protein_coding	protein_coding	ENST00000591680	8	108147

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000244	125735	0	13	125748	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.46	707	825	0.857	0.0000477	9817
Missense in Polyphen		109	195.25	0.55827		2465
Synonymous	0.0412	302	303	0.997	0.0000153	3012
Loss of Function	6.29	4	53.7	0.0744	0.00000366	676

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000123
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.000148	0.000139
European (Non-Finnish)	0.0000536	0.0000527
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.424
• rvis_EVS: -0.74
• rvis_percentile_EVS: 13.79

Haploinsufficiency Scores

• pHI: 0.457
• hipred: N
• hipred_score: 0.484
• ghis: 0.605

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.751

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpatch8

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: RNA binding;protein binding;metal ion binding