C8orf48

chromosome 8 open reading frame 48

Basic information

Region (hg38): 8:13566869-13568288

Links

ENSG00000164743 ∙ NCBI:157773 ∙ ∙ HGNC:26345 ∙ Uniprot:Q96LL4 ∙ 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 C8orf48 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C8orf48 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				1		1
missense			4	3		7
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	4	0

Variants in C8orf48

This is a list of pathogenic ClinVar variants found in the C8orf48 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-13567218-A-G			Likely benign (Mar 01, 2023)
8-13567331-G-T		not specified	Uncertain significance (Aug 23, 2021)
8-13567392-A-G		not specified	Uncertain significance (Jul 20, 2021)
8-13567395-G-A		not specified	Likely benign (Nov 08, 2021)
8-13567407-C-A		not specified	Uncertain significance (Jul 06, 2021)
8-13567519-C-G		not specified	Uncertain significance (Jul 06, 2021)
8-13567647-A-C			Likely benign (Mar 01, 2023)
8-13567939-T-C			Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C8orf48	protein_coding	protein_coding	ENST00000297324	1	1445

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000173	0.472	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.23	204	160	1.27	0.00000796	2079
Missense in Polyphen		40	35.55	1.1252		504
Synonymous	-1.72	79	61.8	1.28	0.00000295	610
Loss of Function	0.305	6	6.86	0.874	2.83e-7	110

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.99
• rvis_percentile_EVS: 97.65

Haploinsufficiency Scores

• pHI: 0.0492

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: AI429214

Gene ontology

• Molecular function: protein binding