C8orf82

chromosome 8 open reading frame 82

Basic information

Region (hg38): 8:144525733-144529132

Links

ENSG00000213563 ∙ NCBI:414919 ∙ ∙ HGNC:33826 ∙ Uniprot:Q6P1X6 ∙ 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 C8orf82 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C8orf82 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			3	1		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	1	0

Variants in C8orf82

This is a list of pathogenic ClinVar variants found in the C8orf82 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-144527470-C-T		not specified	Uncertain significance (Jul 14, 2021)
8-144527471-G-T		not specified	Uncertain significance (Aug 12, 2021)
8-144527482-C-T		not specified	Likely benign (Aug 13, 2021)
8-144528767-C-A		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C8orf82	protein_coding	protein_coding	ENST00000524821	3	3400

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000361	0.220	125107	0	44	125151	0.000176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.139	76	79.5	0.956	0.00000539	1285
Missense in Polyphen		42	38.148	1.101		614
Synonymous	0.585	34	38.6	0.880	0.00000293	466
Loss of Function	-0.552	6	4.71	1.27	2.01e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00104	0.00104
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000981	0.00000886
Middle Eastern	0.00	0.00
South Asian	0.000655	0.000654
Other	0.000337	0.000327

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.354
• ghis: 0.445

Essentials

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

Mouse Genome Informatics

• Gene name: C030006K11Rik