CBR1 (carbonyl reductase 1) - Rat Genome Database

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Gene: CBR1 (carbonyl reductase 1) Homo sapiens
Analyze
Symbol: CBR1
Name: carbonyl reductase 1
RGD ID: 737546
HGNC Page HGNC:1548
Description: Enables carbonyl reductase (NADPH) activity and oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor. Involved in several processes, including glucocorticoid metabolic process; positive regulation of reactive oxygen species metabolic process; and vitamin K metabolic process. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 15-hydroxyprostaglandin dehydrogenase; 20-beta-hydroxysteroid dehydrogenase; alcohol dehydrogenase [NAD(P)+] CBR1; carbonyl reductase (NADPH) 1; carbonyl reductase [NADPH] 1; CBR; hCBR1; NADPH-dependent carbonyl reductase 1; PG-9-KR; prostaglandin 9-ketoreductase; prostaglandin-E(2) 9-reductase; SDR21C1; short chain dehydrogenase/reductase family 21C member 1; short chain dehydrogenase/reductase family 21C, member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: AC009248.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382136,070,024 - 36,073,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2136,069,941 - 36,073,166 (+)EnsemblGRCh38hg38GRCh38
GRCh372137,442,322 - 37,445,462 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362136,364,155 - 36,367,332 (+)NCBINCBI36Build 36hg18NCBI36
Build 342136,364,154 - 36,367,332NCBI
Celera2122,641,173 - 22,644,350 (+)NCBICelera
Cytogenetic Map21q22.12NCBI
HuRef2122,920,731 - 22,923,910 (+)NCBIHuRef
CHM1_12137,004,079 - 37,007,256 (+)NCBICHM1_1
T2T-CHM13v2.02134,453,083 - 34,456,223 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-naphthoquinone  (EXP)
1,4-dithiothreitol  (EXP)
1,4-naphthoquinone  (EXP)
13-dihydrodaunorubicin  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-Benzoylpyridine  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
9,10-phenanthroquinone  (EXP)
Aloe emodin  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
andrographolide  (ISO)
antimonite  (EXP)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP,ISO)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
butylated hydroxyanisole  (EXP)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chloroprene  (ISO)
ciprofibrate  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
Clofop  (EXP)
coumarin  (ISO)
coumestrol  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP,ISO)
daunorubicin  (EXP)
deguelin  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenzofurans  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
diethyl maleate  (ISO)
dioxygen  (EXP,ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
emodin  (EXP)
endosulfan  (ISO)
etacrynic acid  (EXP)
ethanol  (ISO)
fenpyroximate  (EXP)
fenthion  (ISO)
flutamide  (ISO)
folpet  (ISO)
FR900359  (EXP)
Frangulin A  (EXP)
Frangulin B  (EXP)
furan  (ISO)
genistein  (EXP,ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
griseofulvin  (ISO)
hexane-2,3-dione  (EXP)
hydrazine  (ISO)
indometacin  (ISO)
inulin  (ISO)
isatin  (EXP)
Isoxanthohumol  (EXP)
ivermectin  (EXP)
L-1,4-dithiothreitol  (EXP)
L-ethionine  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
m-xylene  (ISO)
menadione  (EXP)
methamphetamine  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
NADP zwitterion  (EXP)
NADP(+)  (EXP)
naphthalenes  (EXP,ISO)
nefazodone  (EXP,ISO)
nimesulide  (ISO)
omeprazole  (ISO)
oxcarbazepine  (EXP)
paracetamol  (EXP,ISO)
parathion  (ISO)
pentachlorophenol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phorbol 13-acetate 12-myristate  (EXP)
phorone  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
Rebamipide  (ISO)
resveratrol  (EXP,ISO)
rotenone  (ISO)
rutin  (EXP)
S-nitrosoglutathione  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sophoraflavanone B  (EXP)
streptozocin  (ISO)
T-2 toxin  (ISO)
tebufenpyrad  (EXP)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
tiaprofenic acid  (EXP)
titanium dioxide  (ISO)
triclosan  (EXP)
undecane  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
xanthohumol  (EXP)
zearalenone  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Effect of experimental kidney disease on the functional expression of hepatic reductases. Alshogran OY, etal., Drug Metab Dispos. 2015 Jan;43(1):100-6. doi: 10.1124/dmd.114.061150. Epub 2014 Oct 20.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Expression of genes controlling transport and catabolism of prostaglandin E2 in lipopolysaccharide fever. Ivanov AI, etal., Am J Physiol Regul Integr Comp Physiol. 2003 Mar;284(3):R698-706. Epub 2002 Oct 24.
4. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
5. Proteomic and transcriptomic analysis for streptozotocin-induced diabetic rat pancreas in response to fungal polysaccharide treatments. Kim SW, etal., Proteomics. 2008 Jun;8(11):2344-61.
6. New developments in anthracycline-induced cardiotoxicity. Mordente A, etal., Curr Med Chem. 2009;16(13):1656-72.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Doxorubicin pathways: pharmacodynamics and adverse effects. Thorn CF, etal., Pharmacogenet Genomics. 2011 Jul;21(7):440-6. doi: 10.1097/FPC.0b013e32833ffb56.
11. Prostaglandin F synthase. Watanabe K, Prostaglandins Other Lipid Mediat. 2002 Aug;68-69:401-7.
12. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1453004   PMID:1540623   PMID:1921984   PMID:2182121   PMID:3083821   PMID:3141401   PMID:3311025   PMID:7005231   PMID:7705364   PMID:8421682   PMID:8432528   PMID:9740676  
PMID:10091578   PMID:10830953   PMID:11306092   PMID:11771743   PMID:12123751   PMID:12477932   PMID:12577067   PMID:12836057   PMID:14744259   PMID:15489334   PMID:16169070   PMID:17344335  
PMID:17353931   PMID:17569794   PMID:17697149   PMID:18449627   PMID:18493841   PMID:18551042   PMID:18676680   PMID:18826943   PMID:19016765   PMID:19022938   PMID:19027726   PMID:19056867  
PMID:19135240   PMID:19170196   PMID:19199708   PMID:19204081   PMID:19442656   PMID:19625176   PMID:19692168   PMID:19841672   PMID:20029029   PMID:20471030   PMID:20562859   PMID:21081503  
PMID:21145461   PMID:21256830   PMID:21320693   PMID:21492153   PMID:21873635   PMID:22124095   PMID:22145905   PMID:22234250   PMID:22360420   PMID:22542806   PMID:22562609   PMID:22658674  
PMID:23133646   PMID:23247010   PMID:23295225   PMID:23314748   PMID:23376485   PMID:23533145   PMID:23576398   PMID:24440593   PMID:24654784   PMID:24711643   PMID:24769233   PMID:25458010  
PMID:25526449   PMID:25541467   PMID:25572536   PMID:25921289   PMID:26282591   PMID:26328486   PMID:26344197   PMID:26381805   PMID:26487511   PMID:26496610   PMID:26499922   PMID:26618866  
PMID:26752685   PMID:27055738   PMID:27562619   PMID:28274719   PMID:28298427   PMID:28450226   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28878267   PMID:29467282   PMID:29851133  
PMID:30009671   PMID:30376862   PMID:30948266   PMID:31048545   PMID:31091453   PMID:31617661   PMID:31741433   PMID:31759632   PMID:31980649   PMID:32416067   PMID:32614325   PMID:32687490  
PMID:32707033   PMID:32767399   PMID:32807901   PMID:32812023   PMID:32994395   PMID:33022573   PMID:33660365   PMID:33845483   PMID:33961781   PMID:33964000   PMID:34079125   PMID:34591612  
PMID:34597346   PMID:34709727   PMID:34732716   PMID:34825085   PMID:34901782   PMID:35256949   PMID:35337019   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35562734   PMID:35831314  
PMID:35914814   PMID:35944360   PMID:35987950   PMID:36042349   PMID:36206098   PMID:36215168   PMID:36232890   PMID:36243803   PMID:36414381   PMID:36470425   PMID:36604567   PMID:36880596  
PMID:37827155   PMID:37905483   PMID:38113892  


Genomics

Comparative Map Data
CBR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382136,070,024 - 36,073,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2136,069,941 - 36,073,166 (+)EnsemblGRCh38hg38GRCh38
GRCh372137,442,322 - 37,445,462 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362136,364,155 - 36,367,332 (+)NCBINCBI36Build 36hg18NCBI36
Build 342136,364,154 - 36,367,332NCBI
Celera2122,641,173 - 22,644,350 (+)NCBICelera
Cytogenetic Map21q22.12NCBI
HuRef2122,920,731 - 22,923,910 (+)NCBIHuRef
CHM1_12137,004,079 - 37,007,256 (+)NCBICHM1_1
T2T-CHM13v2.02134,453,083 - 34,456,223 (+)NCBIT2T-CHM13v2.0
Cbr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391693,404,752 - 93,407,226 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1693,402,741 - 93,407,393 (+)EnsemblGRCm39 Ensembl
GRCm381693,607,837 - 93,610,349 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1693,605,853 - 93,610,505 (+)EnsemblGRCm38mm10GRCm38
MGSCv371693,608,082 - 93,610,594 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361693,496,379 - 93,498,862 (+)NCBIMGSCv36mm8
Celera1694,690,584 - 94,693,095 (+)NCBICelera
Cytogenetic Map16C4NCBI
cM Map1654.53NCBI
Cbr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81146,346,405 - 46,348,815 (+)NCBIGRCr8
mRatBN7.21132,860,571 - 32,862,981 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1132,857,991 - 32,895,275 (+)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl1132,908,950 - 32,911,393 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1141,554,857 - 41,557,234 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01134,226,398 - 34,228,775 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01133,387,189 - 33,389,552 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01133,813,041 - 33,815,418 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01137,436,992 - 37,439,368 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41133,787,957 - 33,790,320 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11133,844,199 - 33,846,562 (+)NCBI
Celera1132,503,106 - 32,505,469 (+)NCBICelera
RH 3.4 Map11 RGD
Cytogenetic Map11q11NCBI
Cbr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540735,351,601 - 35,354,510 (-)NCBIChiLan1.0ChiLan1.0
CBR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22232,191,135 - 32,194,450 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12127,051,164 - 27,054,375 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02122,440,726 - 22,443,950 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12135,800,177 - 35,803,458 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2135,800,177 - 35,803,458 (+)Ensemblpanpan1.1panPan2
LOC610164
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13131,316,573 - 31,321,413 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3130,416,847 - 30,421,683 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03130,613,805 - 30,618,648 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13130,485,378 - 30,490,206 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03130,499,405 - 30,504,233 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03130,990,002 - 30,995,329 (+)NCBIUU_Cfam_GSD_1.0
Cbr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497130,876,539 - 30,898,111 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365006,458,721 - 6,591,928 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365006,569,708 - 6,591,266 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC110256483
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.113199,713,741 - 199,719,535 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103218526
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1280,096,743 - 80,099,982 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660547,919,444 - 7,922,741 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in CBR1
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1 copy number loss See cases [RCV000133619] Chr21:35772177..38558509 [GRCh38]
Chr21:37144475..39930433 [GRCh37]
Chr21:36066345..38852303 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1 copy number loss See cases [RCV000135412] Chr21:35543872..39993338 [GRCh38]
Chr21:36916169..41365265 [GRCh37]
Chr21:35838039..40287135 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NC_000021.8:g.36323351_37470324del deletion Thrombocytopenia [RCV001003852] Chr21:36323351..37470324 [GRCh37]
Chr21:21q22.12
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3 copy number gain See cases [RCV000512585] Chr21:36183329..42311538 [GRCh37]
Chr21:21q22.12-22.2
likely pathogenic
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 copy number gain not provided [RCV000684166] Chr21:33980213..42542987 [GRCh37]
Chr21:21q22.11-22.2
pathogenic
GRCh37/hg19 21q22.12(chr21:37248475-37646409)x3 copy number gain not provided [RCV000684142] Chr21:37248475..37646409 [GRCh37]
Chr21:21q22.12
uncertain significance
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NC_000021.8:g.(?_37133458)_(38311203_?)dup duplication Holocarboxylase synthetase deficiency [RCV000824666] Chr21:37133458..38311203 [GRCh37]
Chr21:21q22.12-22.13
uncertain significance
GRCh37/hg19 21q22.12(chr21:36919361-37475794)x3 copy number gain not provided [RCV000847467] Chr21:36919361..37475794 [GRCh37]
Chr21:21q22.12
uncertain significance
GRCh37/hg19 21q22.12(chr21:36921412-37467619)x3 copy number gain not provided [RCV001007128] Chr21:36921412..37467619 [GRCh37]
Chr21:21q22.12
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001757.4(CBR1):c.591G>A (p.Thr197=) single nucleotide variant not provided [RCV000887205] Chr21:36072639 [GRCh38]
Chr21:37444937 [GRCh37]
Chr21:21q22.12
benign
NM_001757.4(CBR1):c.583G>A (p.Gly195Arg) single nucleotide variant not provided [RCV000894661] Chr21:36072631 [GRCh38]
Chr21:37444929 [GRCh37]
Chr21:21q22.12
likely benign
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NC_000021.8:g.(?_37133458)_(38311203_?)dup duplication Holocarboxylase synthetase deficiency [RCV001327816] Chr21:37133458..38311203 [GRCh37]
Chr21:21q22.12-22.13
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3
pathogenic
NC_000021.9:g.34799252_36071979del deletion Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [RCV001818111] Chr21:34799252..36071979 [GRCh38]
Chr21:21q22.12
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854) copy number gain not specified [RCV002052729] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q22.12(chr21:36921412-37475794) copy number gain not specified [RCV002052736] Chr21:36921412..37475794 [GRCh37]
Chr21:21q22.12
uncertain significance
NC_000021.8:g.(?_32439271)_(39212984_?)dup duplication Amyotrophic lateral sclerosis type 1 [RCV001939883]|DYRK1A-related intellectual disability syndrome [RCV003107882] Chr21:32439271..39212984 [GRCh37]
Chr21:21q22.11-22.13
uncertain significance
GRCh37/hg19 21q22.12(chr21:37248476-37646409)x3 copy number gain not provided [RCV002474881] Chr21:37248476..37646409 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.331A>G (p.Met111Val) single nucleotide variant Inborn genetic diseases [RCV002817446] Chr21:36070991 [GRCh38]
Chr21:37443289 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.767T>C (p.Leu256Pro) single nucleotide variant Inborn genetic diseases [RCV002974664] Chr21:36072815 [GRCh38]
Chr21:37445113 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.794A>G (p.His265Arg) single nucleotide variant Inborn genetic diseases [RCV002950255] Chr21:36072842 [GRCh38]
Chr21:37445140 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.242A>G (p.Tyr81Cys) single nucleotide variant Inborn genetic diseases [RCV002764206] Chr21:36070357 [GRCh38]
Chr21:37442655 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.356G>A (p.Arg119Gln) single nucleotide variant Inborn genetic diseases [RCV002919628] Chr21:36071016 [GRCh38]
Chr21:37443314 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.182A>C (p.Gln61Pro) single nucleotide variant Inborn genetic diseases [RCV002955572] Chr21:36070297 [GRCh38]
Chr21:37442595 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.691G>A (p.Val231Met) single nucleotide variant Inborn genetic diseases [RCV002959867] Chr21:36072739 [GRCh38]
Chr21:37445037 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.764C>T (p.Ala255Val) single nucleotide variant Inborn genetic diseases [RCV002854841] Chr21:36072812 [GRCh38]
Chr21:37445110 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.475C>T (p.Arg159Cys) single nucleotide variant Inborn genetic diseases [RCV002668765] Chr21:36072523 [GRCh38]
Chr21:37444821 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.661A>G (p.Ile221Val) single nucleotide variant Inborn genetic diseases [RCV002855594] Chr21:36072709 [GRCh38]
Chr21:37445007 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.625G>A (p.Ala209Thr) single nucleotide variant Inborn genetic diseases [RCV003195492] Chr21:36072673 [GRCh38]
Chr21:37444971 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.241T>G (p.Tyr81Asp) single nucleotide variant Inborn genetic diseases [RCV003173910] Chr21:36070356 [GRCh38]
Chr21:37442654 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.155C>T (p.Ala52Val) single nucleotide variant Inborn genetic diseases [RCV003309393] Chr21:36070270 [GRCh38]
Chr21:37442568 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.124C>G (p.Arg42Gly) single nucleotide variant Inborn genetic diseases [RCV003381716] Chr21:36070239 [GRCh38]
Chr21:37442537 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_001757.4(CBR1):c.823G>A (p.Glu275Lys) single nucleotide variant Inborn genetic diseases [RCV003363829] Chr21:36072871 [GRCh38]
Chr21:37445169 [GRCh37]
Chr21:21q22.12
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3
pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3
pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3
pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1400
Count of miRNA genes:715
Interacting mature miRNAs:775
Transcripts:ENST00000290349, ENST00000399191, ENST00000439427, ENST00000466328, ENST00000530908
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH91556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,445,041 - 37,445,155UniSTSGRCh37
Build 362136,366,911 - 36,367,025RGDNCBI36
Celera2122,643,929 - 22,644,043RGD
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map21q22.13UniSTS
HuRef2122,923,489 - 22,923,603UniSTS
GeneMap99-GB4 RH Map21185.51UniSTS
GDB:185176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,445,157 - 37,445,393UniSTSGRCh37
Build 362136,367,027 - 36,367,263RGDNCBI36
Celera2122,644,045 - 22,644,281RGD
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map21q22.13UniSTS
HuRef2122,923,605 - 22,923,841UniSTS
CBR1_1984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,444,752 - 37,445,454UniSTSGRCh37
Build 362136,366,622 - 36,367,324RGDNCBI36
Celera2122,643,640 - 22,644,342RGD
HuRef2122,923,200 - 22,923,902UniSTS
RH17586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,445,006 - 37,445,250UniSTSGRCh37
Build 362136,366,876 - 36,367,120RGDNCBI36
Celera2122,643,894 - 22,644,138RGD
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map21q22.13UniSTS
HuRef2122,923,454 - 22,923,698UniSTS
GeneMap99-GB4 RH Map21197.9UniSTS
NCBI RH Map21269.2UniSTS
SHGC-52102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372137,445,216 - 37,445,414UniSTSGRCh37
Build 362136,367,086 - 36,367,284RGDNCBI36
Celera2122,644,104 - 22,644,302RGD
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map21q22.13UniSTS
HuRef2122,923,664 - 22,923,862UniSTS
TNG Radiation Hybrid Map2113108.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1 1 10
Medium 2429 1955 1714 620 1204 461 3968 1531 3727 411 1437 1593 175 1 1185 2406 4 2
Low 6 1036 10 3 701 3 389 664 7 8 16 8 19 382
Below cutoff 2 1 20 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB003151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB124848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL548852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF141836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M62420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N51716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000290349   ⟹   ENSP00000290349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2136,070,024 - 36,073,164 (+)Ensembl
RefSeq Acc Id: ENST00000399191   ⟹   ENSP00000382143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2136,070,035 - 36,072,533 (+)Ensembl
RefSeq Acc Id: ENST00000439427   ⟹   ENSP00000395132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2136,070,015 - 36,071,583 (+)Ensembl
RefSeq Acc Id: ENST00000466328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2136,069,941 - 36,071,216 (+)Ensembl
RefSeq Acc Id: ENST00000530908   ⟹   ENSP00000434613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2136,069,941 - 36,073,166 (+)Ensembl
RefSeq Acc Id: NM_001286789   ⟹   NP_001273718
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,070,024 - 36,073,164 (+)NCBI
HuRef2122,920,668 - 22,923,923 (+)NCBI
CHM1_12137,004,016 - 37,007,269 (+)NCBI
T2T-CHM13v2.02134,453,083 - 34,456,223 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001757   ⟹   NP_001748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,070,024 - 36,073,164 (+)NCBI
GRCh372137,442,285 - 37,445,462 (+)ENTREZGENE
GRCh372137,442,285 - 37,445,462 (+)NCBI
Build 362136,364,155 - 36,367,332 (+)NCBI Archive
HuRef2122,920,668 - 22,923,923 (+)NCBI
CHM1_12137,004,016 - 37,007,269 (+)NCBI
T2T-CHM13v2.02134,453,083 - 34,456,223 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001748   ⟸   NM_001757
- Peptide Label: isoform 1
- UniProtKB: B4DFK7 (UniProtKB/Swiss-Prot),   B2RBZ7 (UniProtKB/Swiss-Prot),   Q3LHW8 (UniProtKB/Swiss-Prot),   P16152 (UniProtKB/Swiss-Prot),   A0A384NL53 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273718   ⟸   NM_001286789
- Peptide Label: isoform 2
- UniProtKB: P16152 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000382143   ⟸   ENST00000399191
RefSeq Acc Id: ENSP00000395132   ⟸   ENST00000439427
RefSeq Acc Id: ENSP00000434613   ⟸   ENST00000530908
RefSeq Acc Id: ENSP00000290349   ⟸   ENST00000290349

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P16152-F1-model_v2 AlphaFold P16152 1-277 view protein structure

Promoters
RGD ID:13602756
Promoter ID:EPDNEW_H27562
Type:initiation region
Name:CBR1_1
Description:carbonyl reductase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,070,024 - 36,070,084EPDNEW
RGD ID:6799428
Promoter ID:HG_KWN:40771
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000399191,   OTTHUMT00000194633,   UC010GMX.1,   UC010GMY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362136,363,986 - 36,364,486 (+)MPROMDB
RGD ID:6851124
Promoter ID:EP73359
Type:multiple initiation site
Name:HS_CBR1
Description:Carbonyl reductase 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362136,364,192 - 36,364,252EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1548 AgrOrtholog
COSMIC CBR1 COSMIC
Ensembl Genes ENSG00000159228 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000290349 ENTREZGENE
  ENST00000290349.11 UniProtKB/Swiss-Prot
  ENST00000399191.3 UniProtKB/TrEMBL
  ENST00000439427.2 UniProtKB/TrEMBL
  ENST00000530908 ENTREZGENE
  ENST00000530908.5 UniProtKB/Swiss-Prot
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000159228 GTEx
HGNC ID HGNC:1548 ENTREZGENE
Human Proteome Map CBR1 Human Proteome Map
InterPro CBR1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sc_DH/Rdtase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDR_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:873 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 873 ENTREZGENE
OMIM 114830 OMIM
PANTHER CARBONYL REDUCTASE 1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARBONYL REDUCTASE [NADPH] 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam adh_short UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CBR1 RGD, PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDRFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADH_SHORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NL53 ENTREZGENE, UniProtKB/TrEMBL
  A8MTM1_HUMAN UniProtKB/TrEMBL
  B2RBZ7 ENTREZGENE
  B4DFK7 ENTREZGENE
  CBR1_HUMAN UniProtKB/Swiss-Prot
  E9PQ63_HUMAN UniProtKB/TrEMBL
  P16152 ENTREZGENE
  Q3LHW8 ENTREZGENE
UniProt Secondary B2RBZ7 UniProtKB/Swiss-Prot
  B4DFK7 UniProtKB/Swiss-Prot
  Q3LHW8 UniProtKB/Swiss-Prot