C6orf118

chromosome 6 open reading frame 118, the group of TSNAXIP1 domain containing

Basic information

Region (hg38): 6:165279664-165309605

Links

ENSG00000112539 ∙ NCBI:168090 ∙ ∙ HGNC:21233 ∙ Uniprot:Q5T5N4 ∙ 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 C6orf118 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C6orf118 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in C6orf118

This is a list of pathogenic ClinVar variants found in the C6orf118 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-165298002-T-C		not specified	Uncertain significance (Sep 27, 2021)
6-165298014-C-T		not specified	Uncertain significance (Aug 09, 2021)
6-165300380-A-G		not specified	Uncertain significance (Apr 24, 2024)
6-165300422-A-T		not specified	Uncertain significance (Aug 12, 2021)
6-165301952-G-T		not specified	Uncertain significance (Oct 14, 2021)
6-165301975-G-A		not specified	Uncertain significance (Sep 16, 2021)
6-165302063-T-C		not specified	Uncertain significance (Sep 27, 2021)
6-165302165-G-A		not specified	Uncertain significance (Sep 27, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C6orf118	protein_coding	protein_coding	ENST00000230301	9	29944

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.24e-20	0.000315	125512	1	235	125748	0.000939

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.827	306	268	1.14	0.0000159	3049
Missense in Polyphen		84	73.616	1.141		1008
Synonymous	-0.288	120	116	1.03	0.00000776	902
Loss of Function	-0.951	27	22.2	1.22	0.00000112	271

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00400	0.00399
Ashkenazi Jewish	0.00	0.00
East Asian	0.000497	0.000489
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000439	0.000431
Middle Eastern	0.000497	0.000489
South Asian	0.00210	0.00206
Other	0.00132	0.00130

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.958
• rvis_EVS: 0.94
• rvis_percentile_EVS: 89.86

Haploinsufficiency Scores

• pHI: 0.0588
• hipred: N
• hipred_score: 0.146
• ghis: 0.381

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: 1700010I14Rik