C1orf141

chromosome 1 open reading frame 141

Basic information

Region (hg38): 1:67092165-67231853

Links

ENSG00000203963 ∙ NCBI:400757 ∙ ∙ HGNC:32044 ∙ Uniprot:Q5JVX7 ∙ 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 C1orf141 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C1orf141 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						0
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	1	0

Variants in C1orf141

This is a list of pathogenic ClinVar variants found in the C1orf141 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-67093186-CTCATT-C			Benign/Likely benign (Dec 01, 2022)
1-67168128-A-G			Uncertain significance (Nov 07, 2023)
1-67168129-G-T		not specified	Benign (Feb 01, 2024)
1-67168142-TG-T			Uncertain significance (Dec 04, 2022)
1-67168147-T-G			Uncertain significance (Oct 04, 2023)
1-67168148-G-A			Uncertain significance (May 07, 2023)
1-67168159-C-T			Likely benign (Aug 23, 2022)
1-67168166-A-G			Uncertain significance (Aug 27, 2022)
1-67168175-A-G		not specified	Uncertain significance (Jan 02, 2024)
1-67168178-T-C			Uncertain significance (Oct 06, 2023)
1-67168179-G-T			Uncertain significance (Jul 17, 2023)
1-67168191-G-GTA			Uncertain significance (Sep 11, 2023)
1-67168195-GGT-G			Likely benign (Sep 29, 2022)
1-67168196-G-A			Uncertain significance (Jul 19, 2023)
1-67168206-T-C			Likely benign (Jul 31, 2023)
1-67168210-T-A			Likely benign (Jan 16, 2024)
1-67169358-C-T			Likely benign (Sep 16, 2022)
1-67169369-A-G		not specified	Uncertain significance (Jan 18, 2022)
1-67169370-C-T			Likely benign (Oct 16, 2022)
1-67169371-A-C			Uncertain significance (Aug 31, 2021)
1-67169375-G-A			Uncertain significance (Jan 12, 2023)
1-67169376-G-T			Uncertain significance (Aug 31, 2022)
1-67169377-G-A			Uncertain significance (Dec 06, 2022)
1-67169382-A-G			Likely benign (Nov 12, 2021)
1-67169393-T-A			Uncertain significance (Aug 04, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C1orf141	protein_coding	protein_coding	ENST00000371007	6	139689

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00323	0.838	114086	0	3	114089	0.0000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0518	188	190	0.989	0.00000874	2653
Missense in Polyphen		46	53.207	0.86455		739
Synonymous	-0.613	75	68.5	1.09	0.00000355	701
Loss of Function	1.17	5	8.74	0.572	3.63e-7	153

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000122	0.000122
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

• loftool: 0.904
• rvis_EVS: 0.88
• rvis_percentile_EVS: 89.07

Haploinsufficiency Scores

• pHI: 0.110
• hipred: N
• hipred_score: 0.146

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: 4921539E11Rik