C8orf58

chromosome 8 open reading frame 58

Basic information

Region (hg38): 8:22599599-22604150

Links

ENSG00000241852 ∙ NCBI:541565 ∙ ∙ HGNC:32233 ∙ Uniprot:Q8NAV2 ∙ 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 C8orf58 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C8orf58 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			6	2		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	2	0

Variants in C8orf58

This is a list of pathogenic ClinVar variants found in the C8orf58 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-22600965-G-A		not specified	Uncertain significance (Aug 12, 2021)
8-22601205-C-G		not specified	Uncertain significance (Jun 11, 2021)
8-22601247-C-T			Likely benign (Oct 01, 2022)
8-22601248-G-A		not specified	Uncertain significance (Aug 02, 2021)
8-22601340-G-C		not specified	Uncertain significance (Jul 09, 2021)
8-22601975-C-T			Likely benign (Oct 01, 2022)
8-22602015-C-T		not specified	Uncertain significance (Sep 17, 2021)
8-22602217-C-T		not specified	Uncertain significance (Sep 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C8orf58	protein_coding	protein_coding	ENST00000289989	7	4550

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000457	0.869	125554	0	45	125599	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.322	225	212	1.06	0.0000132	2268
Missense in Polyphen		51	55.414	0.92035		735
Synonymous	-0.530	95	88.6	1.07	0.00000501	808
Loss of Function	1.41	9	14.9	0.604	7.90e-7	175

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000515	0.000506
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000247	0.000238
Middle Eastern	0.00	0.00
South Asian	0.000138	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.349
• rvis_EVS: 0.78
• rvis_percentile_EVS: 87.14

Haploinsufficiency Scores

• pHI: 0.118
• hipred: N
• hipred_score: 0.148
• ghis: 0.520

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 9930012K11Rik
• Phenotype: hearing/vestibular/ear phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)