C8orf74

chromosome 8 open reading frame 74

Basic information

Region (hg38): 8:10672627-10700590

Links

ENSG00000171060 ∙ NCBI:203076 ∙ ∙ HGNC:32296 ∙ Uniprot:Q6P047 ∙ 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 C8orf74 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C8orf74 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			4	1		5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	1	0

Variants in C8orf74

This is a list of pathogenic ClinVar variants found in the C8orf74 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-10674665-G-A		not specified	Likely benign (Oct 05, 2021)
8-10697719-A-C		not specified	Uncertain significance (Jul 26, 2021)
8-10698002-A-C		not specified	Uncertain significance (Sep 14, 2021)
8-10698004-A-C		not specified	Uncertain significance (Oct 06, 2021)
8-10700373-A-C		not specified	Uncertain significance (Sep 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C8orf74	protein_coding	protein_coding	ENST00000304519	4	27957

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.03e-12	0.00511	124623	0	44	124667	0.000176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.79	234	169	1.39	0.0000105	1858
Missense in Polyphen		64	44.929	1.4245		558
Synonymous	-2.55	109	80.0	1.36	0.00000556	584
Loss of Function	-1.65	14	8.73	1.60	3.72e-7	104

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000383	0.000378
Ashkenazi Jewish	0.00	0.00
East Asian	0.000171	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.000137	0.000133
Middle Eastern	0.000171	0.000167
South Asian	0.000631	0.000588
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.6

Haploinsufficiency Scores

• pHI: 0.0829
• hipred: N
• hipred_score: 0.180
• ghis: 0.412

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• 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: 4930578I06Rik

Gene ontology

• Molecular function: protein binding