UQCC1

ubiquinol-cytochrome c reductase complex assembly factor 1, the group of Mitochondrial respiratory chain complex assembly factors

Basic information

Region (hg38): 20:35302565-35412031

Previous symbols: [ "C20orf44", "UQCC" ]

Links

ENSG00000101019 ∙ NCBI:55245 ∙ OMIM:611797 ∙ HGNC:15891 ∙ Uniprot:Q9NVA1 ∙ 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 UQCC1 gene.

• Inborn genetic diseases (17 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UQCC1 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			17		1	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	1

Variants in UQCC1

This is a list of pathogenic ClinVar variants found in the UQCC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-35303946-C-G		not specified	Uncertain significance (Jul 16, 2021)
20-35303989-A-C		not specified	Uncertain significance (Aug 02, 2021)
20-35304005-G-T		not specified	Uncertain significance (Dec 19, 2022)
20-35304050-A-C		not specified	Uncertain significance (Dec 12, 2023)
20-35304051-T-G		not specified	Uncertain significance (Dec 20, 2021)
20-35304056-T-C		not specified	Uncertain significance (Feb 05, 2024)
20-35306701-G-A		not specified	Uncertain significance (Dec 01, 2022)
20-35306724-T-C		not specified	Uncertain significance (Aug 02, 2023)
20-35306757-C-G		not specified	Uncertain significance (Mar 01, 2023)
20-35306757-C-T		not specified	Uncertain significance (Aug 10, 2021)
20-35314708-C-T		not specified	Uncertain significance (May 16, 2023)
20-35314711-C-A		not specified	Uncertain significance (Sep 29, 2022)
20-35314746-T-C		not specified	Uncertain significance (Nov 22, 2021)
20-35314749-A-T		not specified	Uncertain significance (Jul 20, 2022)
20-35347186-T-C		not specified	Uncertain significance (Sep 21, 2021)
20-35347241-G-A		not specified	Uncertain significance (Sep 06, 2022)
20-35381959-C-T		not specified	Uncertain significance (Apr 24, 2023)
20-35384039-T-A		not specified	Uncertain significance (Jan 04, 2022)
20-35384111-C-T			Benign (Feb 18, 2020)
20-35394112-C-A		not specified	Uncertain significance (Mar 20, 2023)
20-35411951-C-A		not specified	Uncertain significance (Oct 12, 2021)
20-35411959-G-T		not specified	Uncertain significance (Jan 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UQCC1	protein_coding	protein_coding	ENST00000374385	10	109576

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.20e-8	0.771	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.409	161	176	0.913	0.00000963	1964
Missense in Polyphen		44	47.827	0.91998		543
Synonymous	1.11	50	61.0	0.820	0.00000327	557
Loss of Function	1.42	15	22.2	0.674	0.00000124	216

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000330	0.000330
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000163	0.000163
South Asian	0.0000347	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability. {ECO:0000269|PubMed:24385928}.

Recessive Scores

• pRec: 0.101

Intolerance Scores

• rvis_EVS: 0.48
• rvis_percentile_EVS: 79.25

Haploinsufficiency Scores

• pHI: 0.545
• hipred: N
• hipred_score: 0.414
• ghis: 0.490

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: E

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Uqcc1

Gene ontology

• Biological process: mitochondrial respiratory chain complex III assembly;positive regulation of mitochondrial translation
• Cellular component: mitochondrial inner membrane;cytoplasmic vesicle
• Molecular function: protein binding