C1orf35

chromosome 1 open reading frame 35

Basic information

Region (hg38): 1:228100726-228105411

Links

ENSG00000143793 ∙ NCBI:79169 ∙ ∙ HGNC:19032 ∙ Uniprot:Q9BU76 ∙ 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 C1orf35 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C1orf35 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			2			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	2	0	0

Variants in C1orf35

This is a list of pathogenic ClinVar variants found in the C1orf35 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-228101247-G-T		not specified	Uncertain significance (Jun 18, 2021)
1-228101445-C-G		not specified	Uncertain significance (Jul 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C1orf35	protein_coding	protein_coding	ENST00000272139	8	4686

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000757	0.767	125617	0	13	125630	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.274	139	148	0.937	0.00000734	1691
Missense in Polyphen		40	56.93	0.70262		644
Synonymous	0.956	53	62.6	0.846	0.00000312	497
Loss of Function	1.11	8	12.2	0.658	5.19e-7	157

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000124	0.000121
Ashkenazi Jewish	0.000104	0.0000993
East Asian	0.0000553	0.0000544
Finnish	0.0000492	0.0000462
European (Non-Finnish)	0.0000372	0.0000352
Middle Eastern	0.0000553	0.0000544
South Asian	0.0000996	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.427
• rvis_EVS: 0.81
• rvis_percentile_EVS: 87.82

Haploinsufficiency Scores

• pHI: 0.127
• hipred: N
• hipred_score: 0.319

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: 2310033P09Rik