CBR1
Basic information
Region (hg38): 21:36069941-36073166
Previous symbols: [ "CBR" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
missense | 21 | 22 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 21 | 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 |
---|---|---|---|---|
21-36070131-C-G | not specified | Uncertain significance (May 26, 2024) | ||
21-36070171-T-G | not specified | Uncertain significance (Aug 01, 2024) | ||
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) | ||
21-36070400-C-A | not specified | Uncertain significance (Jul 31, 2024) | ||
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) | ||
21-36071036-C-T | not specified | Uncertain significance (Dec 03, 2024) | ||
21-36072502-C-T | not specified | Uncertain significance (Dec 05, 2024) | ||
21-36072523-C-T | not specified | Uncertain significance (Dec 21, 2022) | ||
21-36072524-G-A | not specified | Uncertain significance (Oct 21, 2024) | ||
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) |
GnomAD
Source:
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:
- 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
- Phenotype
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