CBR4

carbonyl reductase 4, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 4:168863769-169010275

Links

ENSG00000145439 ∙ NCBI:84869 ∙ OMIM:619394 ∙ HGNC:25891 ∙ Uniprot:Q8N4T8 ∙ 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 CBR4 gene.

• Inborn genetic diseases (9 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CBR4 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	9	0	0

Variants in CBR4

This is a list of pathogenic ClinVar variants found in the CBR4 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-168877827-C-A			Benign (Mar 03, 2015)
4-168877893-T-TGAGCGCGCTGGCC		Pancreatic adenocarcinoma	Uncertain significance (Mar 17, 2020)
4-168877896-G-A		Pancreatic adenocarcinoma	Uncertain significance (Jun 27, 2018)
4-168877897-C-T		Pancreatic adenocarcinoma	Likely benign (Oct 03, 2022)
4-168877900-G-A		Pancreatic adenocarcinoma	Likely benign (Mar 17, 2018)
4-168877902-T-C		PALLD-related disorder	Uncertain significance (Jan 10, 2023)
4-168877902-T-G		not specified	Uncertain significance (Dec 10, 2021)
4-168877903-G-A		Pancreatic adenocarcinoma	Likely benign (Jul 08, 2023)
4-168877905-C-T		Pancreatic adenocarcinoma	Uncertain significance (Mar 27, 2022)
4-168877906-C-T		Pancreatic adenocarcinoma	Benign (Jan 30, 2024)
4-168877910-C-T		Pancreatic adenocarcinoma	Uncertain significance (Jun 08, 2022)
4-168877916-G-A		Pancreatic adenocarcinoma	Uncertain significance (Sep 09, 2023)
4-168877916-GC-G		Pancreatic adenocarcinoma	Uncertain significance (Jul 16, 2020)
4-168877918-C-T		Pancreatic adenocarcinoma	Likely benign (Jan 24, 2023)
4-168877921-C-G		Pancreatic adenocarcinoma	Likely benign (Oct 01, 2018)
4-168877922-G-C		Pancreatic adenocarcinoma	Uncertain significance (Nov 15, 2021)
4-168877922-G-T		Pancreatic adenocarcinoma • not specified	Uncertain significance (Jan 20, 2024)
4-168877925-A-T		Pancreatic adenocarcinoma	Uncertain significance (Jun 23, 2021)
4-168877929-A-T		Pancreatic adenocarcinoma	Uncertain significance (May 21, 2023)
4-168877932-C-A		Pancreatic adenocarcinoma	Uncertain significance (Mar 28, 2018)
4-168877932-C-T		Pancreatic adenocarcinoma	Uncertain significance (Oct 20, 2015)
4-168877935-C-T		Pancreatic adenocarcinoma	Uncertain significance (Jan 27, 2022)
4-168877936-C-T		Pancreatic adenocarcinoma	Likely benign (Mar 05, 2022)
4-168877937-G-A		Pancreatic adenocarcinoma	Uncertain significance (May 10, 2023)
4-168877937-G-C		Pancreatic adenocarcinoma	Uncertain significance (Mar 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CBR4	protein_coding	protein_coding	ENST00000306193	5	146506

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000607	0.276	125613	0	134	125747	0.000533

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0768	120	122	0.980	0.00000575	1515
Missense in Polyphen		35	37.688	0.92868		471
Synonymous	0.145	44	45.2	0.973	0.00000220	475
Loss of Function	0.0477	8	8.15	0.982	3.60e-7	119

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000644	0.000644
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00363	0.00356
European (Non-Finnish)	0.000298	0.000281
Middle Eastern	0.000109	0.000109
South Asian	0.0000654	0.0000653
Other	0.00182	0.00163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The heterotetramer with HSD17B8 has NADH-dependent 3- ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis (PubMed:19571038, PubMed:25203508). Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD (PubMed:25203508). The homotetramer has NADPH-dependent quinone reductase activity (PubMed:19000905). Both homotetramer and the heterotetramer have broad substrate specificity and can reduce 9,10- phenanthrenequinone, 1,4-benzoquinone and various other o-quinones and p-quinones (in vitro) (PubMed:19000905, PubMed:19571038, PubMed:25203508). {ECO:0000269|PubMed:19000905, ECO:0000269|PubMed:19571038, ECO:0000269|PubMed:25203508}.
• Pathway: Metabolism of lipids;Fatty acyl-CoA biosynthesis;Metabolism;Fatty acid metabolism (Consensus)

Intolerance Scores

• loftool: 0.485
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.23

Haploinsufficiency Scores

• pHI: 0.216
• hipred: N
• hipred_score: 0.289
• ghis: 0.562

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.145

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cbr4

Gene ontology

• Biological process: fatty acid biosynthetic process;daunorubicin metabolic process;doxorubicin metabolic process;protein homotetramerization;protein heterotetramerization;oxidation-reduction process
• Cellular component: mitochondrial matrix;oxidoreductase complex
• Molecular function: NAD(P)H dehydrogenase (quinone) activity;protein binding;NADPH dehydrogenase (quinone) activity;3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity;quinone binding;NADPH binding