CYP27B1 (cytochrome P450 family 27 subfamily B member 1) - Rat Genome Database

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Gene: CYP27B1 (cytochrome P450 family 27 subfamily B member 1) Homo sapiens
Analyze
Symbol: CYP27B1
Name: cytochrome P450 family 27 subfamily B member 1
RGD ID: 69201
HGNC Page HGNC
Description: Enables calcidiol 1-monooxygenase activity and secalciferol 1-monooxygenase activity. Involved in several processes, including calcitriol biosynthetic process from calciol; decidualization; and regulation of monooxygenase activity. Located in cytoplasm. Implicated in hepatitis B; obesity; rickets; type 1 diabetes mellitus; and vitamin D-dependent rickets type 1A.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 1alpha(OH)ase; 25 hydroxyvitamin D3-1-alpha hydroxylase; 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; 25-OHD-1 alpha-hydroxylase; calcidiol 1-monooxygenase; CP2B; CYP1; CYP1alpha; CYP27B; cytochrome p450 27B1; cytochrome P450 subfamily XXVIIB polypeptide 1; cytochrome P450, family 27, subfamily B, polypeptide 1; cytochrome P450C1 alpha; cytochrome P450VD1-alpha; P450c1; PDDR; VD3 1A hydroxylase; VDD1; VDDR; VDDRI; VDR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381257,762,334 - 57,767,078 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1257,762,334 - 57,768,986 (-)EnsemblGRCh38hg38GRCh38
GRCh371258,156,117 - 58,160,861 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361256,442,384 - 56,447,243 (-)NCBINCBI36hg18NCBI36
Build 341256,442,385 - 56,447,151NCBI
Celera1257,813,712 - 57,818,571 (-)NCBI
Cytogenetic Map12q14.1NCBI
HuRef1255,192,956 - 55,197,815 (-)NCBIHuRef
CHM1_11258,123,921 - 58,128,780 (-)NCBICHM1_1
T2T-CHM13v2.01257,730,683 - 57,735,427 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
acrylamide  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (EXP)
biochanin A  (EXP)
bisphenol A  (ISO)
bromobenzene  (ISO)
caesium atom  (ISO)
calcidiol  (EXP,ISO)
calciol  (ISO)
calcitriol  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
corosolic acid  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
etoposide  (EXP)
flavonoids  (ISO)
genistein  (EXP)
gentamycin  (ISO)
ketoconazole  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
medroxyprogesterone acetate  (EXP)
melphalan  (EXP)
metformin  (EXP)
methapyrilene  (EXP)
N-methyl-N-nitrosourea  (ISO)
nickel atom  (EXP)
oxybenzone  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
PD 0325901  (ISO)
PhIP  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
phosphorus atom  (ISO)
phosphorus(.)  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
protein kinase inhibitor  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
rotenone  (EXP)
SB 203580  (EXP)
sulfasalazine  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (EXP)
temozolomide  (EXP)
tetrachloroethene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triadimefon  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
uranium atom  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vitamin D  (ISO)

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
Abdominal wall muscle weakness  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bone pain  (IAGP)
Bowing of the legs  (IAGP)
Bulging epiphyses  (IAGP)
Bulging of the costochondral junction  (IAGP)
Deformed rib cage  (IAGP)
Delayed epiphyseal ossification  (IAGP)
Delayed eruption of teeth  (IAGP)
Difficulty standing  (IAGP)
Difficulty walking  (IAGP)
Elevated alkaline phosphatase of bone origin  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating parathyroid hormone level  (IAGP)
Enamel hypoplasia  (IAGP)
Enlargement of the ankles  (IAGP)
Enlargement of the costochondral junction  (IAGP)
Enlargement of the wrists  (IAGP)
Failure to thrive  (IAGP)
Femoral bowing  (IAGP)
Fibular bowing  (IAGP)
Flat occiput  (IAGP)
Frontal bossing  (IAGP)
Generalized aminoaciduria  (IAGP)
Generalized hypotonia  (IAGP)
Genu varum  (IAGP)
Growth delay  (IAGP)
Hypocalcemic seizures  (IAGP)
Hypophosphatemia  (IAGP)
Hypotonia  (IAGP)
Increased hepatitis B virus antibody level  (IAGP)
Increased susceptibility to fractures  (IAGP)
Irregular, rachitic-like metaphyses  (IAGP)
Irritability  (IAGP)
Low levels of vitamin D  (IAGP)
Low serum calcitriol  (IAGP)
Metaphyseal irregularity  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Osteomalacia  (IAGP)
Postnatal growth retardation  (IAGP)
Protuberant abdomen  (IAGP)
Rachitic rosary  (IAGP)
Recurrent fractures  (IAGP)
Rickets  (IAGP)
Secondary hyperparathyroidism  (IAGP)
Short stature  (IAGP)
Sparse bone trabeculae  (IAGP)
Subperiosteal bone resorption  (IAGP)
Tetany  (IAGP)
Thin bony cortex  (IAGP)
Tibial bowing  (IAGP)
Wide cranial sutures  (IAGP)
Widely patent fontanelles and sutures  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. Bailey R, etal., Diabetes. 2007 Oct;56(10):2616-21. Epub 2007 Jul 2.
2. Vitamin D Deficiency Increases Lipogenesis and Reduces Beta-Oxidation in the Liver of Diet-Induced Obese Mice. Borges CC, etal., J Nutr Sci Vitaminol (Tokyo). 2018;64(2):106-115. doi: 10.3177/jnsv.64.106.
3. Metabolism of 25-hydroxyvitamin D in copper-laden rat: a model of Wilson's disease. Carpenter TO, etal., Am J Physiol. 1988 Feb;254(2 Pt 1):E150-4.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Role of insulin in the stimulation of renal 25-hydroxyvitamin D3-1 alpha-hydroxylase by phosphorus deprivation in rats. Ikeda K, etal., Metabolism. 1987 Jun;36(6):555-7.
6. Metabolic acidosis suppresses 25-hydroxyvitamin in D3-1alpha-hydroxylase in the rat kidney. Distinct site and mechanism of action. Kawashima H, etal., J Clin Invest. 1982 Jul;70(1):135-40.
7. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. Kitanaka S, etal., N Engl J Med. 1998 Mar 5;338(10):653-61.
8. Vitamin D deficiency and a CYP27B1-1260 promoter polymorphism are associated with chronic hepatitis C and poor response to interferon-alfa based therapy. Lange CM, etal., J Hepatol. 2011 May;54(5):887-93. doi: 10.1016/j.jhep.2010.08.036. Epub 2011 Jan 20.
9. The deficiency and the supplementation of vitamin D and liver: Lessons of chronic fructose-rich diet in mice. Maia-Ceciliano TC, etal., J Steroid Biochem Mol Biol. 2019 Sep;192:105399. doi: 10.1016/j.jsbmb.2019.105399. Epub 2019 Jun 5.
10. Possible mechanism of impaired calcium and vitamin D metabolism in nephrotic rats. Mizokuchi M, etal., Kidney Int. 1992 Aug;42(2):335-40.
11. Generation of novel genetically modified rats to reveal the molecular mechanisms of vitamin D actions. Nishikawa M, etal., Sci Rep. 2020 Mar 30;10(1):5677. doi: 10.1038/s41598-020-62048-1.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. Panda DK, etal., Proc Natl Acad Sci U S A 2001 Jun 19;98(13):7498-503.
14. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
15. Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms. Ramos-Lopez E, etal., Diabetes Obes Metab. 2008 Aug;10(8):683-5. Epub 2008 May 12.
16. CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients. Ramos-Lopez E, etal., J Steroid Biochem Mol Biol. 2007 Mar;103(3-5):807-10. Epub 2007 Jan 16.
17. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. Effects of repeated administration of rifampicin and isoniazid on vitamin D metabolism in mice. Sheng L, etal., Steroids. 2015 Dec;104:203-7. doi: 10.1016/j.steroids.2015.10.004. Epub 2015 Oct 22.
21. Single-nucleotide polymorphism at CYP27B1-1260, but not VDR Taq I, is possibly associated with persistent hepatitis B virus infection. Zhu Q, etal., Genet Test Mol Biomarkers. 2012 Sep;16(9):1115-21. doi: 10.1089/gtmb.2012.0148.
Additional References at PubMed
PMID:1662663   PMID:1690216   PMID:1971995   PMID:9282826   PMID:9295274   PMID:9333115   PMID:9344864   PMID:9415400   PMID:9428799   PMID:9837822   PMID:10320521   PMID:10359826  
PMID:10518789   PMID:10566658   PMID:11799066   PMID:12039697   PMID:12050193   PMID:12050281   PMID:12107095   PMID:12137802   PMID:12161526   PMID:12386916   PMID:12477932   PMID:12496369  
PMID:12520522   PMID:12746631   PMID:12855575   PMID:14671156   PMID:15225751   PMID:15243130   PMID:15296474   PMID:15331405   PMID:15342556   PMID:15583024   PMID:15589699   PMID:15795327  
PMID:15947108   PMID:15951480   PMID:15956353   PMID:16061850   PMID:16549446   PMID:16720713   PMID:17023519   PMID:17079137   PMID:17207990   PMID:17207994   PMID:17236759   PMID:17254772  
PMID:17267208   PMID:17287116   PMID:17368179   PMID:17395559   PMID:17395703   PMID:17426122   PMID:17488797   PMID:17878529   PMID:17932346   PMID:18495603   PMID:18676680   PMID:18689381  
PMID:18767073   PMID:18767934   PMID:18768522   PMID:18843020   PMID:19064572   PMID:19154546   PMID:19170196   PMID:19219539   PMID:19255064   PMID:19343046   PMID:19453261   PMID:19454612  
PMID:19505920   PMID:19524013   PMID:19525955   PMID:19625176   PMID:19667158   PMID:19706847   PMID:19783860   PMID:19852851   PMID:19891555   PMID:19913121   PMID:19951419   PMID:19966181  
PMID:19998245   PMID:20007432   PMID:20082271   PMID:20152900   PMID:20304056   PMID:20453000   PMID:20518841   PMID:20534770   PMID:20619365   PMID:20628086   PMID:20648053   PMID:20654748  
PMID:20687218   PMID:20701904   PMID:20809279   PMID:20831823   PMID:20847308   PMID:20877624   PMID:21107545   PMID:21440908   PMID:21441443   PMID:21542014   PMID:21833088   PMID:21869486  
PMID:21873635   PMID:22190362   PMID:22326730   PMID:22443290   PMID:22446158   PMID:22511602   PMID:22516854   PMID:22547098   PMID:22588163   PMID:22612324   PMID:22862690   PMID:22995334  
PMID:23045480   PMID:23063903   PMID:23149444   PMID:23286944   PMID:23334593   PMID:23423976   PMID:23444327   PMID:23483640   PMID:23614044   PMID:23886824   PMID:23894780   PMID:24029861  
PMID:24158849   PMID:24245571   PMID:24308945   PMID:24371450   PMID:24471562   PMID:24535953   PMID:24576880   PMID:24643654   PMID:25060765   PMID:25284246   PMID:25371233   PMID:25488826  
PMID:25501638   PMID:25542806   PMID:25544771   PMID:26124321   PMID:26241700   PMID:26291067   PMID:26466946   PMID:26575398   PMID:26607259   PMID:27016371   PMID:27074284   PMID:27175669  
PMID:27210415   PMID:27287609   PMID:27381199   PMID:27399352   PMID:27618536   PMID:27904983   PMID:27922682   PMID:27977320   PMID:28009432   PMID:28033387   PMID:28074193   PMID:28594127  
PMID:28622535   PMID:28665452   PMID:28665937   PMID:28926322   PMID:29110708   PMID:29175129   PMID:29457277   PMID:29502202   PMID:29549592   PMID:30172168   PMID:30382318   PMID:30578920  
PMID:30668811   PMID:30875612   PMID:30887870   PMID:30993743   PMID:31235702   PMID:31398293   PMID:31467173   PMID:31520221   PMID:31696245   PMID:32001361   PMID:32056782   PMID:32127688  
PMID:32142934   PMID:32183826   PMID:32197412   PMID:32260235   PMID:32393512   PMID:32844632   PMID:32915988   PMID:32926064   PMID:32932410   PMID:33058307   PMID:33109593   PMID:33259013  
PMID:33305962   PMID:33594806   PMID:33823104   PMID:33961781   PMID:33961971   PMID:34226633   PMID:34250710   PMID:34977256   PMID:35166042  


Genomics

Comparative Map Data
CYP27B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381257,762,334 - 57,767,078 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1257,762,334 - 57,768,986 (-)EnsemblGRCh38hg38GRCh38
GRCh371258,156,117 - 58,160,861 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361256,442,384 - 56,447,243 (-)NCBINCBI36hg18NCBI36
Build 341256,442,385 - 56,447,151NCBI
Celera1257,813,712 - 57,818,571 (-)NCBI
Cytogenetic Map12q14.1NCBI
HuRef1255,192,956 - 55,197,815 (-)NCBIHuRef
CHM1_11258,123,921 - 58,128,780 (-)NCBICHM1_1
T2T-CHM13v2.01257,730,683 - 57,735,427 (-)NCBI
Cyp27b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910126,884,115 - 126,891,897 (+)NCBIGRCm39mm39
GRCm39 Ensembl10126,884,119 - 126,888,875 (+)Ensembl
GRCm3810127,048,246 - 127,054,884 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10127,048,250 - 127,053,006 (+)EnsemblGRCm38mm10GRCm38
MGSCv3710126,485,302 - 126,490,062 (+)NCBIGRCm37mm9NCBIm37
MGSCv3610126,451,200 - 126,455,955 (+)NCBImm8
Celera10129,440,145 - 129,444,905 (+)NCBICelera
Cytogenetic Map10D3NCBI
Cyp27b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2762,869,340 - 62,876,242 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl762,871,297 - 62,876,241 (+)Ensembl
Rnor_6.0770,333,150 - 70,340,006 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl770,335,061 - 70,340,005 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0770,512,763 - 70,517,707 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera760,014,507 - 60,019,451 (+)NCBICelera
Cytogenetic Map7q22NCBI
LOC102011841
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554585,472,404 - 5,477,001 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554585,472,404 - 5,477,001 (-)NCBIChiLan1.0ChiLan1.0
CYP27B1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11231,419,773 - 31,424,822 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1231,419,773 - 31,424,822 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01231,158,814 - 31,164,462 (+)NCBIMhudiblu_PPA_v0panPan3
CYP27B1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1101,825,224 - 1,830,845 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl101,826,046 - 1,829,911 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha101,888,246 - 1,893,920 (-)NCBI
ROS_Cfam_1.0101,834,457 - 1,840,136 (-)NCBI
ROS_Cfam_1.0 Ensembl101,834,464 - 1,839,154 (-)Ensembl
UMICH_Zoey_3.1101,812,161 - 1,817,832 (-)NCBI
UNSW_CanFamBas_1.0102,054,207 - 2,059,882 (-)NCBI
UU_Cfam_GSD_1.0102,179,134 - 2,184,808 (-)NCBI
LOC101978323
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494556,964,979 - 56,970,660 (+)NCBI
SpeTri2.0NW_0049366461,899,686 - 1,904,104 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYP27B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl523,050,114 - 23,058,470 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1523,053,129 - 23,058,865 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CYP27B1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11153,675,704 - 53,681,372 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1153,675,226 - 53,680,443 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037192,280,050 - 192,285,176 (+)NCBIVero_WHO_p1.0
LOC101700851
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480210,176,919 - 10,181,657 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462480210,176,865 - 10,181,725 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
A007H24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371258,162,434 - 58,162,686UniSTSGRCh37
Build 361256,448,701 - 56,448,953RGDNCBI36
Celera1257,820,029 - 57,820,281RGD
Cytogenetic Map12q13.1-q13.3UniSTS
Cytogenetic Map12q13UniSTS
HuRef1255,199,273 - 55,199,525UniSTS
GeneMap99-GB4 RH Map12251.37UniSTS
RH48116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371258,156,285 - 58,156,405UniSTSGRCh37
Build 361256,442,552 - 56,442,672RGDNCBI36
Celera1257,813,880 - 57,814,000RGD
Cytogenetic Map12q13.1-q13.3UniSTS
HuRef1255,193,124 - 55,193,244UniSTS
GeneMap99-GB4 RH Map12277.56UniSTS
NCBI RH Map12459.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1889
Count of miRNA genes:825
Interacting mature miRNAs:970
Transcripts:ENST00000228606, ENST00000546496, ENST00000546567, ENST00000547344, ENST00000547451, ENST00000552186
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


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 adipose tissue appendage entire extraembryonic component
High
Medium 12 5 170 5 56 3 32 12 16 81 21 193 4 8
Low 1152 770 1377 447 1006 295 2699 301 1458 288 1228 1389 162 808 1437 3
Below cutoff 1265 2111 172 166 798 162 1622 1860 2214 49 198 26 4 396 1341 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB005038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB005989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB005990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB006987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB767277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF027152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF072470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF246895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF256213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF500480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW449645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY288916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP296031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000228606   ⟹   ENSP00000228606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,762,334 - 57,767,078 (-)Ensembl
RefSeq Acc Id: ENST00000546496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,765,470 - 57,766,456 (-)Ensembl
RefSeq Acc Id: ENST00000546567   ⟹   ENSP00000449472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,764,137 - 57,765,685 (-)Ensembl
RefSeq Acc Id: ENST00000546609   ⟹   ENSP00000476959
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,765,011 - 57,768,986 (-)Ensembl
RefSeq Acc Id: ENST00000547344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,762,334 - 57,767,095 (-)Ensembl
RefSeq Acc Id: ENST00000547451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,764,544 - 57,765,685 (-)Ensembl
RefSeq Acc Id: ENST00000552186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,765,457 - 57,766,511 (-)Ensembl
RefSeq Acc Id: NM_000785   ⟹   NP_000776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,762,334 - 57,767,078 (-)NCBI
GRCh371258,156,117 - 58,160,976 (-)ENTREZGENE
Build 361256,442,384 - 56,447,243 (-)NCBI Archive
HuRef1255,192,956 - 55,197,815 (-)ENTREZGENE
CHM1_11258,123,921 - 58,128,780 (-)NCBI
T2T-CHM13v2.01257,730,683 - 57,735,427 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000776   ⟸   NM_000785
- UniProtKB: O15528 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000228606   ⟸   ENST00000228606
RefSeq Acc Id: ENSP00000476959   ⟸   ENST00000546609
RefSeq Acc Id: ENSP00000449472   ⟸   ENST00000546567

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15528-F1-model_v2 AlphaFold O15528 1-508 view protein structure

Promoters
RGD ID:6789851
Promoter ID:HG_KWN:16006
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001SQB.1,   UC001SQC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361256,445,246 - 56,446,682 (-)MPROMDB
RGD ID:6789852
Promoter ID:HG_KWN:16007
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000785,   UC001SQA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361256,446,786 - 56,447,286 (-)MPROMDB
RGD ID:7224601
Promoter ID:EPDNEW_H18047
Type:initiation region
Name:CYP27B1_3
Description:cytochrome P450 family 27 subfamily B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18049  EPDNEW_H18050  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,765,603 - 57,765,663EPDNEW
RGD ID:7224605
Promoter ID:EPDNEW_H18049
Type:multiple initiation site
Name:CYP27B1_1
Description:cytochrome P450 family 27 subfamily B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18047  EPDNEW_H18050  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,767,078 - 57,767,138EPDNEW
RGD ID:7224609
Promoter ID:EPDNEW_H18050
Type:initiation region
Name:CYP27B1_2
Description:cytochrome P450 family 27 subfamily B member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18047  EPDNEW_H18049  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,769,131 - 57,769,191EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
CYP27B1, 7-BP DUP duplication Vitamin D-dependent rickets, type 1A [RCV000001732] Chr12:12q13.1-q13.3 pathogenic
NM_000785.4(CYP27B1):c.589+1G>A single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV000001734] Chr12:57765296 [GRCh38]
Chr12:58159079 [GRCh37]
Chr12:12q14.1
pathogenic
CYP27B1, 5-BP DEL/6-BP INS indel Vitamin D-dependent rickets, type 1A [RCV000001737] Chr12:12q13.1-q13.3 pathogenic
NM_000785.4(CYP27B1):c.386+1G>A single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV000001738] Chr12:57766006 [GRCh38]
Chr12:58159789 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000001725]|Vitamin D-dependent rickets, type 1A [RCV001195100] Chr12:57766073 [GRCh38]
Chr12:58159856 [GRCh37]
Chr12:12q14.1
pathogenic|likely pathogenic
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV000001726] Chr12:57766019 [GRCh38]
Chr12:58159802 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV000001727] Chr12:57764510 [GRCh38]
Chr12:58158293 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.1144C>T (p.Pro382Ser) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV000001728]|not provided [RCV001851560] Chr12:57764169 [GRCh38]
Chr12:58157952 [GRCh37]
Chr12:12q14.1
pathogenic|uncertain significance
NM_000785.4(CYP27B1):c.631del (p.Glu211fs) deletion Vitamin D-dependent rickets, type 1A [RCV000001729] Chr12:57765170 [GRCh38]
Chr12:58158953 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.693del (p.Thr232fs) deletion Vitamin D-dependent rickets, type 1A [RCV000001730] Chr12:57765108 [GRCh38]
Chr12:58158891 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.262del (p.Val88fs) deletion Vitamin D-dependent rickets, type 1A [RCV000001731]|not provided [RCV000254925] Chr12:57766131 [GRCh38]
Chr12:58159914 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV000001733] Chr12:57764755 [GRCh38]
Chr12:58158538 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV000001735]|not provided [RCV001234461] Chr12:57763798 [GRCh38]
Chr12:58157581 [GRCh37]
Chr12:12q14.1
pathogenic|likely pathogenic
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000001736]|Vitamin D-dependent rickets, type 1A [RCV001195099]|not provided [RCV000481523] Chr12:57764147 [GRCh38]
Chr12:58157930 [GRCh37]
Chr12:12q14.1
pathogenic|likely pathogenic
NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV000001739] Chr12:57764148 [GRCh38]
Chr12:58157931 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV000001740] Chr12:57764487 [GRCh38]
Chr12:58158270 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV000001741] Chr12:57765320 [GRCh38]
Chr12:58159103 [GRCh37]
Chr12:12q14.1
pathogenic
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 copy number loss See cases [RCV000052813] Chr12:57013355..63042498 [GRCh38]
Chr12:57407139..63436278 [GRCh37]
Chr12:55693406..61722545 [NCBI36]
Chr12:12q13.3-14.2
pathogenic
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1 copy number loss See cases [RCV000052814] Chr12:57041158..60273934 [GRCh38]
Chr12:57434942..60667715 [GRCh37]
Chr12:55721209..58953982 [NCBI36]
Chr12:12q13.3-14.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV001329404]|not provided [RCV000255484] Chr12:57763738 [GRCh38]
Chr12:58157521 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.*76G>A single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000266794] Chr12:57763066 [GRCh38]
Chr12:58156849 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.*446G>A single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000364545] Chr12:57762696 [GRCh38]
Chr12:58156479 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000318208]|not provided [RCV001373348] Chr12:57764457 [GRCh38]
Chr12:58158240 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.*635G>A single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000391373] Chr12:57762507 [GRCh38]
Chr12:58156290 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.*426_*428dup duplication Vitamin D-dependent rickets [RCV000269964] Chr12:57762713..57762714 [GRCh38]
Chr12:58156496..58156497 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000321839]|not provided [RCV001850635] Chr12:57763164 [GRCh38]
Chr12:58156947 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.-22C>G single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000345491] Chr12:57767063 [GRCh38]
Chr12:58160846 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.348C>T (p.His116=) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000348837]|not provided [RCV000907118] Chr12:57766045 [GRCh38]
Chr12:58159828 [GRCh37]
Chr12:12q14.1
benign|uncertain significance
NM_000785.4(CYP27B1):c.801C>T (p.His267=) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000372905] Chr12:57764916 [GRCh38]
Chr12:58158699 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000309324]|not provided [RCV001859852] Chr12:57767002 [GRCh38]
Chr12:58160785 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.794A>T (p.Gln265Leu) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000278531] Chr12:57764923 [GRCh38]
Chr12:58158706 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000388320]|not provided [RCV001850636] Chr12:57765345 [GRCh38]
Chr12:58159128 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.437T>A (p.Leu146His) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000294033] Chr12:57765449 [GRCh38]
Chr12:58159232 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.*301T>C single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000306248] Chr12:57762841 [GRCh38]
Chr12:58156624 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.*722C>G single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000349748] Chr12:57762420 [GRCh38]
Chr12:58156203 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.788T>G (p.Phe263Cys) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000352162] Chr12:57765013 [GRCh38]
Chr12:58158796 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) microsatellite Inborn genetic diseases [RCV001267045]|Vitamin D-dependent rickets, type 1 [RCV001028038]|Vitamin D-dependent rickets, type 1A [RCV001808725]|not provided [RCV000271425] Chr12:57763698..57763699 [GRCh38]
Chr12:58157481..58157482 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.*472C>A single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000309907] Chr12:57762670 [GRCh38]
Chr12:58156453 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1385A>T (p.Glu462Val) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000376617] Chr12:57763639 [GRCh38]
Chr12:58157422 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.*295G>A single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000360997] Chr12:57762847 [GRCh38]
Chr12:58156630 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000626155]|not provided [RCV001860473] Chr12:57763649 [GRCh38]
Chr12:58157432 [GRCh37]
Chr12:12q14.1
pathogenic|likely pathogenic
NM_000785.4(CYP27B1):c.171dup (p.Leu58fs) duplication Vitamin D-dependent rickets, type 1A [RCV001843547]|not provided [RCV000731471] Chr12:57766870..57766871 [GRCh38]
Chr12:58160653..58160654 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000723316]|not provided [RCV000443114] Chr12:57766088 [GRCh38]
Chr12:58159871 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.373G>A (p.Gly125Arg) single nucleotide variant not provided [RCV000498710] Chr12:57766020 [GRCh38]
Chr12:58159803 [GRCh37]
Chr12:12q14.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000785.4(CYP27B1):c.1395G>A (p.Leu465=) single nucleotide variant not provided [RCV000938712] Chr12:57763629 [GRCh38]
Chr12:58157412 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.1353C>G (p.Gly451=) single nucleotide variant not provided [RCV000919254] Chr12:57763671 [GRCh38]
Chr12:58157454 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.1414-95C>T single nucleotide variant not provided [RCV001724575] Chr12:57763350 [GRCh38]
Chr12:58157133 [GRCh37]
Chr12:12q14.1
benign
NM_000785.4(CYP27B1):c.*143G>A single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001115132] Chr12:57762999 [GRCh38]
Chr12:58156782 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.*415G>A single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001115128] Chr12:57762727 [GRCh38]
Chr12:58156510 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.987T>C (p.Ala329=) single nucleotide variant not provided [RCV000926092] Chr12:57764527 [GRCh38]
Chr12:58158310 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.386+10C>T single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001111797]|not provided [RCV000926093] Chr12:57765997 [GRCh38]
Chr12:58159780 [GRCh37]
Chr12:12q14.1
likely benign|uncertain significance
NM_000785.4(CYP27B1):c.102C>G (p.Arg34=) single nucleotide variant not provided [RCV000882799] Chr12:57766940 [GRCh38]
Chr12:58160723 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.402G>C (p.Trp134Cys) single nucleotide variant not provided [RCV001035234] Chr12:57765484 [GRCh38]
Chr12:58159267 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000779109]|not provided [RCV001390770] Chr12:57765051 [GRCh38]
Chr12:58158834 [GRCh37]
Chr12:12q14.1
pathogenic|uncertain significance
NM_000785.4(CYP27B1):c.54G>A (p.Ala18=) single nucleotide variant not provided [RCV000897462] Chr12:57766988 [GRCh38]
Chr12:58160771 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.*215G>C single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001115131] Chr12:57762927 [GRCh38]
Chr12:58156710 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.*329T>C single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001115130] Chr12:57762813 [GRCh38]
Chr12:58156596 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.*345T>C single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001115129] Chr12:57762797 [GRCh38]
Chr12:58156580 [GRCh37]
Chr12:12q14.1
uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1 copy number loss not provided [RCV001006506] Chr12:57582163..59031979 [GRCh37]
Chr12:12q13.3-14.1
likely pathogenic
NM_000785.4(CYP27B1):c.318G>A (p.Glu106=) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001112265] Chr12:57766075 [GRCh38]
Chr12:58159858 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.*764T>A single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001112167] Chr12:57762378 [GRCh38]
Chr12:58156161 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV000988872] Chr12:57763667 [GRCh38]
Chr12:58157450 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001111796] Chr12:57765432 [GRCh38]
Chr12:58159215 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.96dup (p.Ala33fs) duplication not provided [RCV001234462] Chr12:57766945..57766946 [GRCh38]
Chr12:58160728..58160729 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.497_500del (p.Val166fs) deletion Vitamin D-dependent rickets, type 1A [RCV001614475] Chr12:57765386..57765389 [GRCh38]
Chr12:58159169..58159172 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001109504] Chr12:57763738 [GRCh38]
Chr12:58157521 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.387-160G>A single nucleotide variant not provided [RCV001577225] Chr12:57765659 [GRCh38]
Chr12:58159442 [GRCh37]
Chr12:12q14.1
likely benign
Single allele single nucleotide variant not provided [RCV001535046] Chr12:57767202 [GRCh38]
Chr12:58160985 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.387-39C>A single nucleotide variant not provided [RCV001654832] Chr12:57765538 [GRCh38]
Chr12:58159321 [GRCh37]
Chr12:12q14.1
benign
NM_000785.4(CYP27B1):c.372C>T (p.Cys124=) single nucleotide variant not provided [RCV000909902] Chr12:57766021 [GRCh38]
Chr12:58159804 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.1414-6T>C single nucleotide variant not provided [RCV000907994] Chr12:57763261 [GRCh38]
Chr12:58157044 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.385G>A (p.Ala129Thr) single nucleotide variant not provided [RCV000896271] Chr12:57766008 [GRCh38]
Chr12:58159791 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.387-8C>A single nucleotide variant not provided [RCV000929903] Chr12:57765507 [GRCh38]
Chr12:58159290 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.463_464dup (p.Gly156fs) duplication Vitamin D-dependent rickets, type 1A [RCV001780910] Chr12:57765421..57765422 [GRCh38]
Chr12:58159204..58159205 [GRCh37]
Chr12:12q14.1
likely pathogenic
NM_000785.4(CYP27B1):c.496G>C (p.Val166Leu) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001111795]|not provided [RCV001512295] Chr12:57765390 [GRCh38]
Chr12:58159173 [GRCh37]
Chr12:12q14.1
benign
NM_000785.4(CYP27B1):c.1040T>A (p.Ile347Asn) single nucleotide variant not provided [RCV001227711] Chr12:57764474 [GRCh38]
Chr12:58158257 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.196-2A>G single nucleotide variant not provided [RCV001227842] Chr12:57766199 [GRCh38]
Chr12:58159982 [GRCh37]
Chr12:12q14.1
likely pathogenic
NM_000785.4(CYP27B1):c.791-7C>G single nucleotide variant not provided [RCV001055048] Chr12:57764933 [GRCh38]
Chr12:58158716 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp) single nucleotide variant not provided [RCV001063199] Chr12:57763195 [GRCh38]
Chr12:58156978 [GRCh37]
Chr12:12q14.1
likely pathogenic
NM_000785.4(CYP27B1):c.584T>A (p.Leu195Gln) single nucleotide variant not provided [RCV001244022] Chr12:57765302 [GRCh38]
Chr12:58159085 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=) single nucleotide variant not provided [RCV000913922] Chr12:57763217 [GRCh38]
Chr12:58157000 [GRCh37]
Chr12:12q14.1
benign
NM_000785.4(CYP27B1):c.1413+113A>C single nucleotide variant not provided [RCV001675497] Chr12:57763498 [GRCh38]
Chr12:58157281 [GRCh37]
Chr12:12q14.1
benign
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 copy number gain not provided [RCV001006505] Chr12:55552371..62126304 [GRCh37]
Chr12:12q13.2-14.1
pathogenic
NM_000785.4(CYP27B1):c.*426T>C single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001112168] Chr12:57762716 [GRCh38]
Chr12:58156499 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.626G>C (p.Cys209Ser) single nucleotide variant not provided [RCV001234408] Chr12:57765175 [GRCh38]
Chr12:58158958 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.117C>T (p.Asp39=) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001112266] Chr12:57766925 [GRCh38]
Chr12:58160708 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.-8_4dup (p.Thr2_Gln3insAsnGlnThrMet) duplication not provided [RCV001207979] Chr12:57767037..57767038 [GRCh38]
Chr12:58160820..58160821 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.96_97del (p.Ala33fs) deletion not provided [RCV001046615] Chr12:57766945..57766946 [GRCh38]
Chr12:58160728..58160729 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.*77G>A single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001115133] Chr12:57763065 [GRCh38]
Chr12:58156848 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.41G>A (p.Arg14His) single nucleotide variant not provided [RCV001203041] Chr12:57767001 [GRCh38]
Chr12:58160784 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.265_270del (p.Ala89_Ala90del) deletion not provided [RCV001216442] Chr12:57766123..57766128 [GRCh38]
Chr12:58159906..58159911 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001109505] Chr12:57763794 [GRCh38]
Chr12:58157577 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.942G>A (p.Leu314=) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001109506]|not provided [RCV001518572] Chr12:57764775 [GRCh38]
Chr12:58158558 [GRCh37]
Chr12:12q14.1
benign|likely benign
NM_000785.4(CYP27B1):c.217_220del (p.Gly73fs) deletion Vitamin D-dependent rickets type 1A [RCV001329405] Chr12:57766173..57766176 [GRCh38]
Chr12:58159956..58159959 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.1340C>T (p.Pro447Leu) single nucleotide variant not provided [RCV001340929] Chr12:57763684 [GRCh38]
Chr12:58157467 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.413G>T (p.Arg138Leu) single nucleotide variant not provided [RCV001315767] Chr12:57765473 [GRCh38]
Chr12:58159256 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1376G>A (p.Arg459His) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV001823195]|not provided [RCV001304461] Chr12:57763648 [GRCh38]
Chr12:58157431 [GRCh37]
Chr12:12q14.1
likely pathogenic|uncertain significance
NM_000785.4(CYP27B1):c.690G>A (p.Val230=) single nucleotide variant not provided [RCV001415018] Chr12:57765111 [GRCh38]
Chr12:58158894 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.1113G>A (p.Lys371=) single nucleotide variant not provided [RCV001295909] Chr12:57764401 [GRCh38]
Chr12:58158184 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1378del (p.Leu460fs) deletion Vitamin D-dependent rickets type 1A [RCV001336989] Chr12:57763646 [GRCh38]
Chr12:58157429 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.1198T>G (p.Tyr400Asp) single nucleotide variant not provided [RCV001297431] Chr12:57764115 [GRCh38]
Chr12:58157898 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.388G>A (p.Glu130Lys) single nucleotide variant not provided [RCV001367121] Chr12:57765498 [GRCh38]
Chr12:58159281 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1290_1294dup (p.Arg432fs) duplication not provided [RCV001384645] Chr12:57763729..57763730 [GRCh38]
Chr12:58157512..58157513 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.330C>T (p.Phe110=) single nucleotide variant not provided [RCV001516250] Chr12:57766063 [GRCh38]
Chr12:58159846 [GRCh37]
Chr12:12q14.1
benign
NM_000785.4(CYP27B1):c.160_161dup (p.Lys55fs) duplication not provided [RCV001380894] Chr12:57766880..57766881 [GRCh38]
Chr12:58160663..58160664 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.51G>A (p.Trp17Ter) single nucleotide variant not provided [RCV001388293] Chr12:57766991 [GRCh38]
Chr12:58160774 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.531G>T (p.Thr177=) single nucleotide variant not provided [RCV001431595] Chr12:57765355 [GRCh38]
Chr12:58159138 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.609C>T (p.Leu203=) single nucleotide variant not provided [RCV001489942] Chr12:57765192 [GRCh38]
Chr12:58158975 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.1358G>T (p.Arg453Leu) single nucleotide variant not provided [RCV001378186] Chr12:57763666 [GRCh38]
Chr12:58157449 [GRCh37]
Chr12:12q14.1
likely pathogenic
NM_000785.4(CYP27B1):c.428C>T (p.Pro143Leu) single nucleotide variant not provided [RCV001379078] Chr12:57765458 [GRCh38]
Chr12:58159241 [GRCh37]
Chr12:12q14.1
likely pathogenic
NM_000785.4(CYP27B1):c.1165C>T (p.Arg389Cys) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV001780911]|not provided [RCV001868859] Chr12:57764148 [GRCh38]
Chr12:58157931 [GRCh37]
Chr12:12q14.1
pathogenic|likely pathogenic
NM_000785.4(CYP27B1):c.1349_1376del (p.Phe450fs) deletion Vitamin D-dependent rickets, type 1A [RCV001780912] Chr12:57763648..57763675 [GRCh38]
Chr12:58157431..58157458 [GRCh37]
Chr12:12q14.1
likely pathogenic
NM_000785.4(CYP27B1):c.403C>T (p.Gln135Ter) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV001780604] Chr12:57765483 [GRCh38]
Chr12:58159266 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.1232G>A (p.Cys411Tyr) single nucleotide variant Vitamin D-dependent rickets, type 1A [RCV001843693] Chr12:57763792 [GRCh38]
Chr12:58157575 [GRCh37]
Chr12:12q14.1
likely pathogenic
NM_000785.4(CYP27B1):c.590-9_656delinsAGGG indel not provided [RCV001988544] Chr12:57765145..57765220 [GRCh38]
Chr12:58158928..58159003 [GRCh37]
Chr12:12q14.1
likely pathogenic
NM_000785.4(CYP27B1):c.986C>T (p.Ala329Val) single nucleotide variant not provided [RCV002039957] Chr12:57764528 [GRCh38]
Chr12:58158311 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.413G>A (p.Arg138His) single nucleotide variant not provided [RCV001985061] Chr12:57765473 [GRCh38]
Chr12:58159256 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.623G>T (p.Gly208Val) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001843329] Chr12:57765178 [GRCh38]
Chr12:58158961 [GRCh37]
Chr12:12q14.1
likely pathogenic
NM_000785.4(CYP27B1):c.1174_1177del (p.Asp392fs) deletion not provided [RCV001913989] Chr12:57764136..57764139 [GRCh38]
Chr12:58157919..58157922 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.170G>T (p.Gly57Val) single nucleotide variant not provided [RCV001949260] Chr12:57766872 [GRCh38]
Chr12:58160655 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.386C>T (p.Ala129Val) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001843328] Chr12:57766007 [GRCh38]
Chr12:58159790 [GRCh37]
Chr12:12q14.1
likely pathogenic
NM_000785.4(CYP27B1):c.1160A>C (p.Asn387Thr) single nucleotide variant Vitamin D-dependent rickets, type 1 [RCV001843330] Chr12:57764153 [GRCh38]
Chr12:58157936 [GRCh37]
Chr12:12q14.1
likely pathogenic
NM_000785.4(CYP27B1):c.164A>T (p.Lys55Met) single nucleotide variant not provided [RCV001966315] Chr12:57766878 [GRCh38]
Chr12:58160661 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.547G>C (p.Val183Leu) single nucleotide variant not provided [RCV002037613] Chr12:57765339 [GRCh38]
Chr12:58159122 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.511C>T (p.Arg171Cys) single nucleotide variant not provided [RCV001955711] Chr12:57765375 [GRCh38]
Chr12:58159158 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met) single nucleotide variant not provided [RCV001869609] Chr12:57764540 [GRCh38]
Chr12:58158323 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1215+5G>A single nucleotide variant not provided [RCV001916782] Chr12:57764093 [GRCh38]
Chr12:58157876 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.341C>G (p.Thr114Arg) single nucleotide variant not provided [RCV002012335] Chr12:57766052 [GRCh38]
Chr12:58159835 [GRCh37]
Chr12:12q14.1
uncertain significance
NM_000785.4(CYP27B1):c.1216-1G>C single nucleotide variant not provided [RCV001953747] Chr12:57763809 [GRCh38]
Chr12:58157592 [GRCh37]
Chr12:12q14.1
pathogenic
NM_000785.4(CYP27B1):c.1166_1170dup (p.Pro391fs) duplication not provided [RCV001875717] Chr12:57764142..57764143 [GRCh38]
Chr12:58157925..58157926 [GRCh37]
Chr12:12q14.1
pathogenic
NC_000012.11:g.(?_57881874)_(58190366_?)dup duplication not provided [RCV001916382] Chr12:57881874..58190366 [GRCh37]
Chr12:12q13.3-14.1
uncertain significance
NM_000785.4(CYP27B1):c.386+14G>A single nucleotide variant not provided [RCV002126263] Chr12:57765993 [GRCh38]
Chr12:58159776 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.1215+20C>T single nucleotide variant not provided [RCV002128809] Chr12:57764078 [GRCh38]
Chr12:58157861 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.669C>A (p.Arg223=) single nucleotide variant not provided [RCV002189849] Chr12:57765132 [GRCh38]
Chr12:58158915 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.386+14G>T single nucleotide variant not provided [RCV002212548] Chr12:57765993 [GRCh38]
Chr12:58159776 [GRCh37]
Chr12:12q14.1
benign
NM_000785.4(CYP27B1):c.645A>G (p.Pro215=) single nucleotide variant not provided [RCV002133630] Chr12:57765156 [GRCh38]
Chr12:58158939 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.791-16C>T single nucleotide variant not provided [RCV002079860] Chr12:57764942 [GRCh38]
Chr12:58158725 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.386+16C>T single nucleotide variant not provided [RCV002151298] Chr12:57765991 [GRCh38]
Chr12:58159774 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.933G>C (p.Val311=) single nucleotide variant not provided [RCV002202501] Chr12:57764784 [GRCh38]
Chr12:58158567 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.981T>C (p.Ser327=) single nucleotide variant not provided [RCV002217518] Chr12:57764533 [GRCh38]
Chr12:58158316 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.1216-18T>G single nucleotide variant not provided [RCV002119036] Chr12:57763826 [GRCh38]
Chr12:58157609 [GRCh37]
Chr12:12q14.1
likely benign
NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs) deletion Vitamin D-dependent rickets, type 1A [RCV002249854] Chr12:57766131..57766141 [GRCh38]
Chr12:58159914..58159924 [GRCh37]
Chr12:12q14.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2606 AgrOrtholog
COSMIC CYP27B1 COSMIC
Ensembl Genes ENSG00000111012 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000228606 ENTREZGENE
  ENSP00000228606.4 UniProtKB/Swiss-Prot
  ENSP00000449472.1 UniProtKB/TrEMBL
  ENSP00000476959.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000228606 ENTREZGENE
  ENST00000228606.9 UniProtKB/Swiss-Prot
  ENST00000546567.5 UniProtKB/TrEMBL
  ENST00000546609.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111012 GTEx
HGNC ID HGNC:2606 ENTREZGENE
Human Proteome Map CYP27B1 Human Proteome Map
InterPro Cyt_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_CS UniProtKB/Swiss-Prot
  Cyt_P450_E_grp-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1594 UniProtKB/Swiss-Prot
NCBI Gene 1594 ENTREZGENE
OMIM 264700 OMIM
  609506 OMIM
Pfam p450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27099 PharmGKB
PRINTS EP450I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CP27B_HUMAN UniProtKB/Swiss-Prot
  F8VWR7_HUMAN UniProtKB/TrEMBL
  O15528 ENTREZGENE
  Q9UP42_HUMAN UniProtKB/TrEMBL
  V9GYP0_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RC61 UniProtKB/Swiss-Prot
  Q548T3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CYP27B1  cytochrome P450 family 27 subfamily B member 1  CYP27B1  cytochrome P450, family 27, subfamily B, polypeptide 1  Symbol and/or name change 5135510 APPROVED