AutismKB 2.0

Annotation Detail for CYP27B1


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Basic Information Top
Gene Symbol:CYP27B1 ( CP2B,CYP1,CYP1alpha,CYP27B,P450c1,PDDR,VDD1,VDDR,VDDRI,VDR )
Gene Full Name: cytochrome P450, family 27, subfamily B, polypeptide 1
Band: 12q14.1
Quick LinksEntrez ID:1594; OMIM: 609506; Uniprot ID:CP27B_HUMAN; ENSEMBL ID: ENSG00000111012; HGNC ID: 2606
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult16 / 19391218
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor0 / 2638450 
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal49 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma5 / 46356107
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye14 / 21105466
heart0 / 896260 
intestine2 / 2344728
kidney33 / 211777155
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node1 / 9161010
mammary gland3 / 15327119
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach3 / 9661931
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205676_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.9
Adipocyte5.55
AdrenalCortex5.95
Adrenalgland4.8
Amygdala6.05
Appendix5.95
AtrioventricularNode4.45
BDCA4+_DentriticCells5.65
Bonemarrow5.65
BronchialEpithelialCells12
CD105+_Endothelial5.7
CD14+_Monocytes6
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid7.1
CD34+6.8
CD4+_Tcells5.9
CD56+_NKCells6.5
CD71+_EarlyErythroid5.25
CD8+_Tcells5.1
CardiacMyocytes7.4
Caudatenucleus5.1
Cerebellum4.6
CerebellumPeduncles6.5
CiliaryGanglion4.05
CingulateCortex5.7
Colorectaladenocarcinoma5.8
DorsalRootGanglion4.5
FetalThyroid5.5
Fetalbrain6.35
Fetalliver4.95
Fetallung4.7
GlobusPallidus4.15
Heart7.4
Hypothalamus6.2
Kidney5.55
Leukemia_chronicMyelogenousK-5625.3
Leukemia_promyelocytic-HL-605
Leukemialymphoblastic(MOLT-4)4.55
Liver7.5
Lung6.25
Lymphnode4.95
Lymphoma_burkitts(Daudi)8.35
Lymphoma_burkitts(Raji)8.3
MedullaOblongata5.2
OccipitalLobe5.05
OlfactoryBulb4.5
Ovary3.9
Pancreas4.5
PancreaticIslet6.1
ParietalLobe6.15
Pituitary6.6
Placenta5.8
Pons5.45
PrefrontalCortex7.05
Prostate6.6
Salivarygland5.1
SkeletalMuscle6.7
Skin4.55
SmoothMuscle6.4
Spinalcord6.1
SubthalamicNucleus5.15
SuperiorCervicalGanglion7.1
TemporalLobe5.2
Testis4.85
TestisGermCell4.7
TestisIntersitial4.75
TestisLeydigCell5.65
TestisSeminiferousTubule4.85
Thalamus5.75
Thymus4.45
Thyroid7.35
Tongue5.8
Tonsil5.55
Trachea4.75
TrigeminalGanglion5.85
Uterus4.7
UterusCorpus5.15
WholeBlood6.2
Wholebrain4.95
colon5.65
pineal_day6.98
pineal_night6.82
retina6.875
small_intestine5.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15629_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala1.82 ± 0.98
Basal Forebrain1.55 ± 0.56
Basal Part of Pons1.18 ± 0.44
Cerebellar Cortex1.2 ± 0.47
Cerebellar Nuclei1.67 ± 0.75
Claustrum2.34 ± 0.91
Epithalamus1.1 ± 0.7
Frontal Lobe1.27 ± 0.65
Globus Pallidus1.94 ± 0.4
Hypothalamus1.66 ± 1.09
Insula1.29 ± 0.48
Limbic Lobe1.42 ± 0.59
Mesencephalon1.57 ± 0.72
Myelencephalon1.44 ± 0.67
Occipital Lobe1.52 ± 0.7
Parietal Lobe1.44 ± 0.78
Pontine Tegmentum1.41 ± 0.6
Striatum1.55 ± 0.46
Subthalamus1.52 ± 0.55
Temporal Lobe1.31 ± 0.64
Thalamus1.4 ± 0.59
White Matter1.98 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cyp27b1CBCerebellum0
0
Cyp27b1CTXCerebral cortex0
0
Cyp27b1HIPHippocampal region0
0
Cyp27b1HPFHippocampal formation0
0
Cyp27b1HYHypothalamus0
0
Cyp27b1LSXLateral septal complex0
0
Cyp27b1MBMidbrain0
0
Cyp27b1MYMedulla0
0
Cyp27b1OLFOlfactory bulb0
0
Cyp27b1PPons0
0
Cyp27b1PALPallidum0
0
Cyp27b1RHPRetrohippocampal region0
0
Cyp27b1sAMYStriatum-like amygdalar nuclei0
0
Cyp27b1STRStriatum0
0
Cyp27b1STRdStriatum dorsal region0
0
Cyp27b1STRvStriatum ventral region0
0
Cyp27b1THThalamus0
0
Peptide Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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