UQCC5

ubiquinol-cytochrome c reductase complex assembly factor 5

Basic information

Region (hg38): 3:52534012-52579237

Previous symbols: [ "C3orf78", "SMIM4" ]

Links

ENSG00000168273 ∙ NCBI:440957 ∙ ∙ HGNC:37257 ∙ Uniprot:Q8WVI0 ∙ 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 UQCC5 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UQCC5 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 UQCC5

This is a list of pathogenic ClinVar variants found in the UQCC5 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-52534546-G-T		not specified	Uncertain significance (Oct 25, 2023)
3-52536835-C-A		not specified	Uncertain significance (Apr 04, 2023)
3-52536842-T-G		not specified	Uncertain significance (Apr 13, 2022)
3-52540435-C-T		not specified	Uncertain significance (May 26, 2023)
3-52540447-T-C		not specified	Uncertain significance (Nov 15, 2021)
3-52548224-C-T		not specified	not provided (Sep 19, 2013)
3-52548429-A-AT			Benign (Aug 15, 2019)
3-52550218-AAAAAC-A			Benign (Jun 23, 2018)
3-52550462-G-A		not specified	not provided (Sep 19, 2013)
3-52550571-G-A			Uncertain significance (Nov 01, 2016)
3-52550699-A-G			Benign (Jun 22, 2018)
3-52554639-G-A			Benign (Jun 23, 2018)
3-52562157-TA-T			Benign (Aug 15, 2019)
3-52563056-TTAAATTATTAATGGTATTAATA-T			Benign (Jun 23, 2018)
3-52563363-CCTCACTAT-C		Clear cell carcinoma of kidney	Pathogenic (Jun 01, 2015)
3-52563415-C-A			Uncertain significance (Feb 08, 2023)
3-52563648-G-A			Benign (Jun 22, 2018)
3-52564343-T-C			Benign (Jun 23, 2018)
3-52564524-G-A			Benign (Jun 19, 2021)
3-52576399-T-C			Benign (Jun 22, 2018)
3-52576497-T-C			Benign (Jun 23, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UQCC5	protein_coding	protein_coding	ENST00000477703	2	45225

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.199	0.659	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.753	23	35.6	0.645	0.00000169	440
Missense in Polyphen		10	14.741	0.67837		170
Synonymous	1.71	6	14.2	0.423	6.19e-7	138
Loss of Function	0.983	1	2.76	0.362	1.17e-7	30

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: 0.39
• rvis_percentile_EVS: 75.75

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Smim4

Gene ontology

• Cellular component: integral component of membrane