C1orf94

chromosome 1 open reading frame 94

Basic information

Region (hg38): 1:34166883-34219131

Links

ENSG00000142698 ∙ NCBI:84970 ∙ ∙ HGNC:28250 ∙ Uniprot:Q6P1W5 ∙ 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 C1orf94 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C1orf94 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			6	1		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	6	1	0

Variants in C1orf94

This is a list of pathogenic ClinVar variants found in the C1orf94 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-34197289-C-T		not specified	Uncertain significance (Aug 12, 2021)
1-34197569-C-G		not specified	Uncertain significance (Jul 26, 2021)
1-34197629-A-T		not specified	Uncertain significance (Sep 14, 2021)
1-34197646-A-G		not specified	Uncertain significance (Jun 18, 2021)
1-34200988-C-T		not specified	Likely benign (Jul 06, 2021)
1-34202218-C-T		not specified	Uncertain significance (Jul 06, 2021)
1-34212294-C-A		not specified	Uncertain significance (Aug 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C1orf94	protein_coding	protein_coding	ENST00000488417	7	52249

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00932	0.990	125558	1	189	125748	0.000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.252	319	332	0.961	0.0000173	3874
Missense in Polyphen		79	90.228	0.87556		1254
Synonymous	0.686	130	140	0.926	0.00000827	1229
Loss of Function	3.07	8	24.4	0.329	0.00000127	271

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00111	0.00111
Ashkenazi Jewish	0.00892	0.00887
East Asian	0.00125	0.00125
Finnish	0.0000484	0.0000462
European (Non-Finnish)	0.000239	0.000237
Middle Eastern	0.00125	0.00125
South Asian	0.000327	0.000294
Other	0.000821	0.000815

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0796

Intolerance Scores

• loftool: 0.848
• rvis_EVS: 1.09
• rvis_percentile_EVS: 91.87

Haploinsufficiency Scores

• pHI: 0.151
• hipred: N
• hipred_score: 0.212

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: CK137956

Gene ontology

• Molecular function: protein binding