C3orf33

chromosome 3 open reading frame 33

Basic information

Region (hg38): 3:155762617-155806278

Links

ENSG00000174928 ∙ NCBI:285315 ∙ OMIM:619654 ∙ HGNC:26434 ∙ Uniprot:Q6P1S2 ∙ 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 C3orf33 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C3orf33 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			1			1
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	0	0

Variants in C3orf33

This is a list of pathogenic ClinVar variants found in the C3orf33 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-155775785-G-A		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C3orf33	protein_coding	protein_coding	ENST00000534941	4	43740

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000584	0.461	124551	0	35	124586	0.000140

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.407	100	112	0.892	0.00000598	1594
Missense in Polyphen		24	31.753	0.75582		486
Synonymous	1.43	25	35.9	0.696	0.00000168	454
Loss of Function	0.580	9	11.1	0.812	7.15e-7	154

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000166	0.000164
Ashkenazi Jewish	0.00	0.00
East Asian	0.000476	0.000445
Finnish	0.00	0.00
European (Non-Finnish)	0.000192	0.000186
Middle Eastern	0.000476	0.000445
South Asian	0.0000390	0.0000327
Other	0.000343	0.000331

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 2: Secreted protein may play a role in transcription regulation via the MAPK3/MAPK1 pathway through an unidentified receptor on the plasma membrane.

Intolerance Scores

• loftool: 0.793
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.38

Haploinsufficiency Scores

• pHI: 0.115
• hipred: N
• hipred_score: 0.146
• ghis: 0.450

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: E130311K13Rik

Gene ontology

• Biological process: regulation of DNA-binding transcription factor activity;negative regulation of ERK1 and ERK2 cascade
• Cellular component: extracellular space;integral component of membrane