C4orf33

chromosome 4 open reading frame 33

Basic information

Region (hg38): 4:129093317-129116640

Links

ENSG00000151470 ∙ NCBI:132321 ∙ ∙ HGNC:27025 ∙ Uniprot:Q8N1A6 ∙ 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 C4orf33 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C4orf33 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			3
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	0	0

Variants in C4orf33

This is a list of pathogenic ClinVar variants found in the C4orf33 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-129102752-G-A		not specified	Uncertain significance (Jul 06, 2021)
4-129109574-C-A		not specified	Uncertain significance (Aug 09, 2021)
4-129109591-A-G		not specified	Uncertain significance (Oct 05, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C4orf33	protein_coding	protein_coding	ENST00000281146	5	23324

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000352	0.607	124608	18	1119	125745	0.00453

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0707	99	97.0	1.02	0.00000443	1308
Missense in Polyphen		30	35.239	0.85132		478
Synonymous	0.830	29	35.3	0.822	0.00000189	348
Loss of Function	0.776	8	10.7	0.744	5.33e-7	134

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0642	0.0644
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.0000479	0.0000462
European (Non-Finnish)	0.000313	0.000308
Middle Eastern	0.000326	0.000326
South Asian	0.000148	0.000131
Other	0.00166	0.00163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.913
• rvis_EVS: 0.84
• rvis_percentile_EVS: 88.23

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.167
• ghis: 0.405

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	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: D3Ertd751e

Gene ontology

• Molecular function: protein binding