C8orf33

chromosome 8 open reading frame 33

Basic information

Region (hg38): 8:145052465-145066685

Links

ENSG00000182307 ∙ NCBI:65265 ∙ ∙ HGNC:26104 ∙ Uniprot:Q9H7E9 ∙ 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 C8orf33 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C8orf33 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				2	1	3
missense			1		1	2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	2	2

Variants in C8orf33

This is a list of pathogenic ClinVar variants found in the C8orf33 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-145052682-G-T		not specified	Uncertain significance (Aug 16, 2021)
8-145053409-C-T			Benign (May 24, 2018)
8-145054093-C-G			Benign (May 24, 2018)
8-145054094-T-G			Likely benign (Sep 01, 2022)
8-145065750-C-T			Likely benign (Sep 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C8orf33	protein_coding	protein_coding	ENST00000331434	5	3653

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.09e-9	0.0389	125722	0	26	125748	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.448	151	136	1.11	0.00000701	1457
Missense in Polyphen		37	41.927	0.88248		484
Synonymous	-1.41	66	52.9	1.25	0.00000261	471
Loss of Function	-0.684	12	9.70	1.24	4.97e-7	107

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000182	0.000181
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000109	0.000109
Finnish	0.0000488	0.0000462
European (Non-Finnish)	0.0000882	0.0000879
Middle Eastern	0.000109	0.000109
South Asian	0.000261	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0862

Intolerance Scores

• loftool: 0.256
• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.15

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.146
• ghis: 0.507

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 1110038F14Rik

Gene ontology

• Molecular function: protein binding