CBR3

carbonyl reductase 3, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 21:36135079-36146562

Links

ENSG00000159231 ∙ NCBI:874 ∙ OMIM:603608 ∙ HGNC:1549 ∙ Uniprot:O75828 ∙ 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 CBR3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CBR3 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			24		1	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	0	1

Variants in CBR3

This is a list of pathogenic ClinVar variants found in the CBR3 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-36135197-C-G		not specified	Uncertain significance (Dec 21, 2023)
21-36135242-T-C		not specified	Uncertain significance (Dec 17, 2023)
21-36135244-G-A		not specified	Uncertain significance (Mar 29, 2022)
21-36135298-A-C		not specified	Uncertain significance (Nov 14, 2023)
21-36135310-G-A		not specified	Uncertain significance (Nov 12, 2021)
21-36135345-G-C		not specified	Uncertain significance (Aug 12, 2021)
21-36135353-G-A		not specified	Uncertain significance (Dec 19, 2023)
21-36135380-A-G		not specified	Uncertain significance (May 31, 2023)
21-36135448-G-A		not specified	Uncertain significance (Apr 04, 2024)
21-36135462-C-A		not specified	Uncertain significance (Jul 12, 2023)
21-36137859-G-T		not specified	Uncertain significance (Feb 15, 2023)
21-36137897-T-C		not specified	Uncertain significance (Jan 19, 2022)
21-36137899-T-A		not specified	Uncertain significance (Nov 13, 2023)
21-36137905-G-A			Benign (Jun 08, 2017)
21-36137915-C-T		not specified	Uncertain significance (Jun 01, 2023)
21-36146126-T-C		not specified	Uncertain significance (Dec 05, 2022)
21-36146219-A-C		not specified	Uncertain significance (Feb 21, 2024)
21-36146225-G-A		not specified	Uncertain significance (Oct 05, 2023)
21-36146274-T-G		not specified	Uncertain significance (May 11, 2022)
21-36146283-C-A		not specified	Uncertain significance (Dec 16, 2022)
21-36146292-C-G		not specified	Uncertain significance (Jul 13, 2021)
21-36146309-C-T		not specified	Uncertain significance (Nov 02, 2023)
21-36146352-C-T		not specified	Uncertain significance (May 11, 2022)
21-36146462-A-G		not specified	Uncertain significance (Jul 14, 2021)
21-36146493-A-G		not specified	Uncertain significance (Sep 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CBR3	protein_coding	protein_coding	ENST00000290354	3	11655

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000302	0.192	125384	2	362	125748	0.00145

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0345	155	154	1.01	0.00000722	1811
Missense in Polyphen		38	36.974	1.0277		453
Synonymous	0.940	56	65.7	0.852	0.00000326	549
Loss of Function	-0.256	8	7.26	1.10	3.08e-7	95

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00198	0.00197
Ashkenazi Jewish	0.0232	0.0234
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000493	0.000492
Middle Eastern	0.000109	0.000109
South Asian	0.000131	0.000131
Other	0.00179	0.00179

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has low NADPH-dependent oxidoreductase activity towards 4-benzoylpyridine and menadione (in vitro). {ECO:0000269|PubMed:18493841}.
• Pathway: Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics;Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Arachidonic acid metabolism - Homo sapiens (human);Doxorubicin Pathway, Pharmacokinetics;Doxorubicin Metabolism Pathway;Nuclear Receptors Meta-Pathway;NRF2 pathway;Phase I - Functionalization of compounds;Prostaglandin Leukotriene metabolism;Leukotriene metabolism;Biological oxidations;Metabolism;Prostaglandin formation from arachidonate;Putative anti-Inflammatory metabolites formation from EPA;Arachidonic acid metabolism (Consensus)

Recessive Scores

• pRec: 0.140

Intolerance Scores

• loftool: 0.601
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.46

Haploinsufficiency Scores

• pHI: 0.168
• hipred: N
• hipred_score: 0.131
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.726

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Cbr3

Gene ontology

• Biological process: xenobiotic metabolic process;phylloquinone catabolic process;cognition;oxidation-reduction process
• Cellular component: extracellular space;nucleoplasm;cytosol
• Molecular function: 3-keto sterol reductase activity;carbonyl reductase (NADPH) activity;protein binding;NADPH binding