AutismKB 2.0

Annotation Detail for EBP


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Basic Information Top
Gene Symbol:EBP ( CDPX2,CHO2,CPX,CPXD )
Gene Full Name: emopamil binding protein (sterol isomerase)
Band: Xp11.23
Quick LinksEntrez ID:10682; OMIM: 300205; Uniprot ID:EBP_HUMAN; ENSEMBL ID: ENSG00000147155; HGNC ID: 3133
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 body3 / 7076142
blastocyst8 / 62319128
fetus50 / 56401288
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult77 / 193912139
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) tumor0 / 941780 
cervical tumor4 / 34366116
chondrosarcoma5 / 8282360
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor12 / 119369100
germ cell tumor15 / 26384556
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor11 / 96359114
lung tumor6 / 10312758
lymphoma4 / 7175555
non-neoplasia2 / 9725020
normal145 / 336030743
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer18 / 102680175
retinoblastoma5 / 46356107
skin tumor8 / 12494964
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites3 / 4001574
bladder0 / 297570 
blood16 / 123478129
bone3 / 7165541
bone marrow1 / 4880120
brain19 / 110098917
cervix4 / 4817183
connective tissue3 / 14925520
ear2 / 16212123
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye13 / 21105461
heart4 / 8962644
intestine14 / 23447259
kidney6 / 21177728
larynx1 / 2414541
liver30 / 207743144
lung22 / 33697465
lymph1 / 4427022
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth0 / 670520 
muscle7 / 10771564
nerve0 / 157680 
ovary4 / 10205139
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta4 / 28082514
prostate27 / 189345142
salivary gland1 / 2015549
skin13 / 21057461
spleen0 / 539520 
stomach10 / 96619103
testis6 / 33044218
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219483_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.1
Adipocyte3.15
AdrenalCortex4.15
Adrenalgland13.45
Amygdala3.5
Appendix3.1
AtrioventricularNode2.35
BDCA4+_DentriticCells3.6
Bonemarrow3.05
BronchialEpithelialCells28.8
CD105+_Endothelial3.25
CD14+_Monocytes3.4
CD19+_BCells(neg._sel.)3.45
CD33+_Myeloid4.1
CD34+4.1
CD4+_Tcells3.8
CD56+_NKCells4.85
CD71+_EarlyErythroid2.95
CD8+_Tcells3.15
CardiacMyocytes3.9
Caudatenucleus2.85
Cerebellum2.65
CerebellumPeduncles3.6
CiliaryGanglion2.55
CingulateCortex3.25
Colorectaladenocarcinoma4.1
DorsalRootGanglion2.4
FetalThyroid3.25
Fetalbrain3.2
Fetalliver2.7
Fetallung2.6
GlobusPallidus2.3
Heart4
Hypothalamus3.45
Kidney2.5
Leukemia_chronicMyelogenousK-5622.85
Leukemia_promyelocytic-HL-602.75
Leukemialymphoblastic(MOLT-4)2.55
Liver4.15
Lung3.4
Lymphnode2.7
Lymphoma_burkitts(Daudi)4.05
Lymphoma_burkitts(Raji)4.3
MedullaOblongata2.9
OccipitalLobe2.85
OlfactoryBulb2.45
Ovary2.05
Pancreas2.5
PancreaticIslet3.35
ParietalLobe3.3
Pituitary3.7
Placenta3.3
Pons3
PrefrontalCortex4.25
Prostate3.7
Salivarygland2.5
SkeletalMuscle3.6
Skin2.35
SmoothMuscle3.55
Spinalcord3.4
SubthalamicNucleus3.15
SuperiorCervicalGanglion3.5
TemporalLobe2.85
Testis2.7
TestisGermCell2.85
TestisIntersitial2.6
TestisLeydigCell3.05
TestisSeminiferousTubule2.7
Thalamus3.2
Thymus2.45
Thyroid3.95
Tongue3.05
Tonsil3.05
Trachea2.65
TrigeminalGanglion3.1
Uterus2.6
UterusCorpus3.1
WholeBlood3.4
Wholebrain2.75
colon3.15
pineal_day7.72
pineal_night5.08
retina3.825
small_intestine3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P171077
  • 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
Amygdala9.82 ± 0.27
Basal Forebrain9.72 ± 0.26
Basal Part of Pons10.11 ± 0.12
Cerebellar Cortex10.02 ± 0.13
Cerebellar Nuclei10.29 ± 0.28
Claustrum10.21 ± 0.29
Epithalamus9.4 ± 0.29
Frontal Lobe9.82 ± 0.26
Globus Pallidus9.07 ± 0.24
Hypothalamus9.96 ± 0.18
Insula9.78 ± 0.16
Limbic Lobe9.84 ± 0.24
Mesencephalon9.64 ± 0.3
Myelencephalon9.74 ± 0.37
Occipital Lobe9.54 ± 0.27
Parietal Lobe9.69 ± 0.27
Pontine Tegmentum9.8 ± 0.27
Striatum9.48 ± 0.25
Subthalamus10.25 ± 0.11
Temporal Lobe9.84 ± 0.29
Thalamus9.62 ± 0.26
White Matter9.07 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
EbpCBCerebellum0.08
0.18
EbpCTXCerebral cortex0.19
0.39
EbpHIPHippocampal region1.32
2.06
EbpHPFHippocampal formation0.87
1.25
EbpHYHypothalamus0.25
0.51
EbpLSXLateral septal complex0.17
0.22
EbpMBMidbrain0.2
0.4
EbpMYMedulla0.04
0.21
EbpOLFOlfactory bulb0.51
1.29
EbpPPons0.43
0.78
EbpPALPallidum0.08
0.08
EbpRHPRetrohippocampal region0.02
0.02
EbpsAMYStriatum-like amygdalar nuclei0.07
0.03
EbpSTRStriatum0.12
0.15
EbpSTRdStriatum dorsal region0.11
0.18
EbpSTRvStriatum ventral region0.16
0.07
EbpTHThalamus0.15
0.18
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003444 12 210 221 HLTHAQSTLDAK Peptide Atlas

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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