AutismKB 2.0

Annotation Detail for ABCB1


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Basic Information Top
Gene Symbol:ABCB1 ( ABC20,CD243,CLCS,GP170,MDR1,MGC163296,P-GP,PGY1 )
Gene Full Name: ATP-binding cassette, sub-family B (MDR/TAP), member 1
Band: 7q21.12
Quick LinksEntrez ID:5243; OMIM: 171050; Uniprot ID:MDR1_HUMAN; ENSEMBL ID: ENSG00000085563; HGNC ID: 40
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 
blastocyst1 / 6231916
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult32 / 193912116
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor5 / 12794390
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal94 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland8 / 33197240
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain42 / 110098938
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine5 / 23447221
kidney10 / 21177747
larynx0 / 241450 
liver4 / 20774319
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle4 / 10771537
nerve1 / 1576863
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209994_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.7
Adipocyte6.3
AdrenalCortex516.5
Adrenalgland192.4
Amygdala15.3
Appendix8.5
AtrioventricularNode8.5
BDCA4+_DentriticCells8.25
Bonemarrow10
BronchialEpithelialCells7.7
CD105+_Endothelial8.05
CD14+_Monocytes7.65
CD19+_BCells(neg._sel.)152.25
CD33+_Myeloid8.7
CD34+10.2
CD4+_Tcells37.7
CD56+_NKCells128.65
CD71+_EarlyErythroid7.75
CD8+_Tcells71.05
CardiacMyocytes18.3
Caudatenucleus11.1
Cerebellum7.05
CerebellumPeduncles10.85
CiliaryGanglion9.2
CingulateCortex14.4
Colorectaladenocarcinoma10.1
DorsalRootGanglion8.55
FetalThyroid7.1
Fetalbrain7.5
Fetalliver10.85
Fetallung6.35
GlobusPallidus9.3
Heart17.35
Hypothalamus16.3
Kidney13.6
Leukemia_chronicMyelogenousK-5627.4
Leukemia_promyelocytic-HL-607.05
Leukemialymphoblastic(MOLT-4)5.75
Liver83.15
Lung9.4
Lymphnode8.6
Lymphoma_burkitts(Daudi)33.5
Lymphoma_burkitts(Raji)14.3
MedullaOblongata8.05
OccipitalLobe10.5
OlfactoryBulb17.45
Ovary5.65
Pancreas7.35
PancreaticIslet10.2
ParietalLobe10.05
Pituitary10.1
Placenta9.4
Pons6.55
PrefrontalCortex20.7
Prostate8.65
Salivarygland7.55
SkeletalMuscle15.3
Skin8.1
SmoothMuscle8.9
Spinalcord12.35
SubthalamicNucleus8.8
SuperiorCervicalGanglion10.75
TemporalLobe7.75
Testis7.1
TestisGermCell6.05
TestisIntersitial6.55
TestisLeydigCell9.1
TestisSeminiferousTubule7.2
Thalamus14.5
Thymus5.75
Thyroid10.1
Tongue10
Tonsil9.2
Trachea7.1
TrigeminalGanglion11.4
Uterus16.65
UterusCorpus16.5
WholeBlood9.15
Wholebrain6.5
colon11.2
pineal_day11
pineal_night12.42
retina11.025
small_intestine34.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16675_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
Amygdala4.35 ± 0.56
Basal Forebrain4.22 ± 0.61
Basal Part of Pons3.6 ± 0.34
Cerebellar Cortex3.61 ± 0.51
Cerebellar Nuclei4.46 ± 0.54
Claustrum4.32 ± 0.75
Epithalamus3.75 ± 0.96
Frontal Lobe4.1 ± 0.64
Globus Pallidus5.46 ± 0.54
Hypothalamus3.95 ± 0.74
Insula4.03 ± 0.69
Limbic Lobe4.2 ± 0.69
Mesencephalon4.32 ± 0.64
Myelencephalon4.32 ± 0.66
Occipital Lobe4.28 ± 0.78
Parietal Lobe4.2 ± 0.69
Pontine Tegmentum4.31 ± 0.66
Striatum4.93 ± 0.6
Subthalamus4.48 ± 0.62
Temporal Lobe4.14 ± 0.63
Thalamus4.25 ± 0.61
White Matter4.88 ± 0.22
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00511309 17 443 459 LYDPTEGMVSVDGQDIR 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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