C6orf132

chromosome 6 open reading frame 132

Basic information

Region (hg38): 6:42092233-42142620

Links

ENSG00000188112 ∙ NCBI:647024 ∙ ∙ HGNC:21288 ∙ Uniprot:Q5T0Z8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the C6orf132 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C6orf132 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			18	3		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	3	0

Variants in C6orf132

This is a list of pathogenic ClinVar variants found in the C6orf132 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-42103795-A-G		not specified	Likely benign (Oct 06, 2021)
6-42103798-T-C		not specified	Uncertain significance (Jun 11, 2021)
6-42104587-G-C		not specified	Uncertain significance (Nov 15, 2021)
6-42105052-G-A		not specified	Uncertain significance (Oct 22, 2021)
6-42105141-G-A		not specified	Uncertain significance (Oct 06, 2024)
6-42105293-G-C		not specified	Uncertain significance (Jan 03, 2024)
6-42105310-G-C		not specified	Uncertain significance (Jan 03, 2024)
6-42105496-G-A		not specified	Uncertain significance (Jul 14, 2021)
6-42105519-C-T		not specified	Uncertain significance (Jul 14, 2021)
6-42105733-T-C		not specified	Uncertain significance (Oct 12, 2021)
6-42106128-A-G		not specified	Uncertain significance (Sep 17, 2021)
6-42106195-G-A		not specified	Uncertain significance (Sep 01, 2021)
6-42106633-G-A			Likely benign (Feb 01, 2024)
6-42106743-G-A		not specified	Uncertain significance (Aug 17, 2021)
6-42106902-C-T		not specified	Uncertain significance (Nov 09, 2021)
6-42106989-G-T		not specified	Uncertain significance (Jul 09, 2021)
6-42107053-C-T		not specified	Uncertain significance (Oct 12, 2021)
6-42107187-G-A		not specified	Uncertain significance (Jun 11, 2021)
6-42107430-G-A		not specified	Likely benign (Nov 12, 2021)
6-42128724-G-T		not specified	Uncertain significance (Jun 18, 2021)
6-42128755-G-A		not specified	Uncertain significance (Oct 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C6orf132	protein_coding	protein_coding	ENST00000341865	5	41502

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.61e-7	0.982	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.85	445	569	0.782	0.0000310	7413
Missense in Polyphen		115	156.56	0.73453		2121
Synonymous	2.49	193	242	0.797	0.0000133	2782
Loss of Function	2.18	14	26.0	0.539	0.00000151	339

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
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

Haploinsufficiency Scores

• pHI: 0.202

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: AI661453