CBR1

carbonyl reductase 1, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 21:36069940-36073166

Previous symbols: [ "CBR" ]

Links

ENSG00000159228 ∙ NCBI:873 ∙ OMIM:114830 ∙ HGNC:1548 ∙ Uniprot:P16152 ∙ 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 CBR1 gene.

• Inborn genetic diseases (15 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CBR1 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					1	1
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	1

Variants in CBR1

This is a list of pathogenic ClinVar variants found in the CBR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-36070239-C-G		not specified	Uncertain significance (Sep 12, 2023)
21-36070261-A-G		not specified	Uncertain significance (Feb 21, 2024)
21-36070270-C-T		not specified	Uncertain significance (Jun 06, 2023)
21-36070297-A-C		not specified	Uncertain significance (Oct 22, 2021)
21-36070356-T-G		not specified	Uncertain significance (Feb 07, 2023)
21-36070357-A-G		not specified	Uncertain significance (Nov 04, 2022)
21-36070985-G-T		not specified	Uncertain significance (Dec 22, 2023)
21-36070991-A-G		not specified	Uncertain significance (Jan 31, 2022)
21-36071016-G-A		not specified	Uncertain significance (Oct 04, 2022)
21-36072523-C-T		not specified	Uncertain significance (Dec 21, 2022)
21-36072553-G-C		not specified	Uncertain significance (Mar 01, 2024)
21-36072631-G-A			Likely benign (Jun 06, 2018)
21-36072638-C-T		not specified	Uncertain significance (Jan 24, 2024)
21-36072639-G-A			Benign (Mar 29, 2018)
21-36072673-G-A		not specified	Uncertain significance (Feb 22, 2023)
21-36072709-A-G		not specified	Uncertain significance (Jul 20, 2022)
21-36072739-G-A		not specified	Uncertain significance (Dec 27, 2022)
21-36072778-C-T		not specified	Uncertain significance (Feb 05, 2024)
21-36072805-T-A		not specified	Uncertain significance (Jan 22, 2024)
21-36072812-C-T		not specified	Uncertain significance (Jun 03, 2022)
21-36072815-T-C		not specified	Uncertain significance (Oct 05, 2021)
21-36072842-A-G		not specified	Uncertain significance (Dec 21, 2022)
21-36072871-G-A		not specified	Uncertain significance (Aug 04, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CBR1	protein_coding	protein_coding	ENST00000290349	3	3226

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000628	0.492	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0906	164	161	1.02	0.00000813	1788
Missense in Polyphen		45	45.21	0.99535		553
Synonymous	-1.53	87	70.6	1.23	0.00000394	568
Loss of Function	0.460	7	8.44	0.829	4.44e-7	92

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000239	0.000239
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000140	0.0000924
European (Non-Finnish)	0.000121	0.000114
Middle Eastern	0.00	0.00
South Asian	0.000526	0.000523
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol. Can convert prostaglandin E2 to prostaglandin F2-alpha. Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione. {ECO:0000269|PubMed:15799708, ECO:0000269|PubMed:17912391, ECO:0000269|PubMed:18449627, ECO:0000269|PubMed:18826943}.
• Pathway: Folate biosynthesis - Homo sapiens (human);Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics;Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Arachidonic acid metabolism - Homo sapiens (human);Doxorubicin Pathway, Pharmacokinetics;Chemical carcinogenesis - Homo sapiens (human);Etodolac Action Pathway;Ketoprofen Action Pathway;Ibuprofen Action Pathway;Rofecoxib Action Pathway;Acetylsalicylic Acid Action Pathway;Diflunisal Action Pathway;Sepiapterin reductase deficiency;Segawa syndrome;Doxorubicin Metabolism Pathway;Leukotriene C4 Synthesis Deficiency;Pterine Biosynthesis;Acetaminophen Action Pathway;Celecoxib Action Pathway;Sulindac Action Pathway;Diclofenac Action Pathway;Ketorolac Action Pathway;Naproxen Action Pathway;Etoricoxib Action Pathway;Carprofen Action Pathway;Flurbiprofen Action Pathway;Fenoprofen Action Pathway;Antrafenine Action Pathway;Antipyrine Action Pathway;Lumiracoxib Action Pathway;Magnesium salicylate Action Pathway;Trisalicylate-choline Action Pathway;Nepafenac Action Pathway;Phenylbutazone Action Pathway;Lornoxicam Action Pathway;Salsalate Action Pathway;Tenoxicam Action Pathway;Tiaprofenic Acid Action Pathway;Tolmetin Action Pathway;Salicylic Acid Action Pathway;Salicylate-sodium Action Pathway;Oxaprozin Action Pathway;Valdecoxib Action Pathway;Nabumetone Action Pathway;Dopa-responsive dystonia;Hyperphenylalaniemia due to guanosine triphosphate cyclohydrolase deficiency;Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (ptps);Hyperphenylalaninemia due to dhpr-deficiency;Indomethacin Action Pathway;Meloxicam Action Pathway;Suprofen Action Pathway;Bromfenac Action Pathway;Mefenamic Acid Action Pathway;Arachidonic Acid Metabolism;Piroxicam Action Pathway;Nuclear Receptors Meta-Pathway;NRF2 pathway;Prostaglandin Synthesis and Regulation;Metabolism of lipids;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Prostaglandin Leukotriene metabolism;Arachidonic acid metabolism;Leukotriene metabolism;Metabolism;Fatty acid metabolism;Prostaglandin formation from arachidonate;Prostaglandin formation from dihomo gama-linoleic acid;Putative anti-Inflammatory metabolites formation from EPA;Arachidonic acid metabolism (Consensus)

Recessive Scores

• pRec: 0.267

Intolerance Scores

• loftool: 0.372
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.66

Haploinsufficiency Scores

• pHI: 0.0439
• hipred: N
• hipred_score: 0.131
• ghis: 0.483

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.994

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cbr1

Gene ontology

• Biological process: drug metabolic process;cyclooxygenase pathway;epithelial cell differentiation;vitamin K metabolic process;oxidation-reduction process
• Cellular component: cytosol;extracellular exosome;extracellular vesicle
• Molecular function: carbonyl reductase (NADPH) activity;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;15-hydroxyprostaglandin dehydrogenase (NADP+) activity;prostaglandin-E2 9-reductase activity