UQCC6

ubiquinol-cytochrome c reductase complex assembly factor 6

Basic information

Region (hg38): 12:103940762-103965708

Previous symbols: [ "C12orf73" ]

Links

ENSG00000204954 ∙ NCBI:728568 ∙ OMIM:618812 ∙ HGNC:34450 ∙ Uniprot:Q69YU5 ∙ 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 UQCC6 gene.

• Inborn genetic diseases (7 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UQCC6 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						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			7	1		8
Total	0	0	7	1	0

Variants in UQCC6

This is a list of pathogenic ClinVar variants found in the UQCC6 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-103941512-G-A		not specified	Uncertain significance (Apr 11, 2023)
12-103942549-G-A		not specified	Uncertain significance (Oct 20, 2021)
12-103942596-G-T		not specified	Uncertain significance (Oct 12, 2022)
12-103942665-C-T		not specified	Uncertain significance (Nov 22, 2023)
12-103943275-G-C		not specified	Uncertain significance (Jul 20, 2022)
12-103943308-C-T		not specified	Uncertain significance (Jul 06, 2021)
12-103946689-G-A		not specified	Uncertain significance (Sep 15, 2021)
12-103946818-T-G			Likely benign (Oct 01, 2021)
12-103946825-G-A		not specified	Uncertain significance (Oct 12, 2022)
12-103946850-G-A		not specified	Uncertain significance (Dec 27, 2023)
12-103946879-G-T		not specified	Uncertain significance (Feb 13, 2024)
12-103946883-A-G		not specified	Uncertain significance (May 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UQCC6	protein_coding	protein_coding	ENST00000378090	2	15507

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0248	0.571	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.473	28	36.0	0.778	0.00000170	448
Missense in Polyphen		13	10.023	1.297		103
Synonymous	0.588	11	13.8	0.799	6.86e-7	142
Loss of Function	-0.0137	2	1.98	1.01	8.77e-8	24

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

Intolerance Scores

• rvis_EVS: 0.83
• rvis_percentile_EVS: 88.16

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: 1190007I07Rik

Gene ontology

• Cellular component: extracellular region