AutismKB 2.0

Annotation Detail for ABCB6


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Basic Information Top
Gene Symbol:ABCB6 ( ABC,ABC14,EST45597,FLJ22414,MTABC3,PRP,umat )
Gene Full Name: ATP-binding cassette, sub-family B (MDR/TAP), member 6
Band: 2q35
Quick LinksEntrez ID:10058; OMIM: 605452; Uniprot ID:ABCB6_HUMAN; ENSEMBL ID: ENSG00000115657,ENSG00000198925; HGNC ID: 47
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 body2 / 7076128
blastocyst2 / 6231932
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult126 / 193912164
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor15 / 94178159
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor14 / 26384553
glioma17 / 106883159
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor7 / 10312767
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal117 / 336030734
ovarian tumor48 / 76682625
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS37 / 125680294
prostate cancer5 / 10268048
retinoblastoma2 / 4635643
skin tumor4 / 12494932
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone3 / 7165541
bone marrow10 / 48801204
brain58 / 110098952
cervix2 / 4817141
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye13 / 21105461
heart1 / 8962611
intestine4 / 23447217
kidney10 / 21177747
larynx1 / 2414541
liver10 / 20774348
lung21 / 33697462
lymph2 / 4427045
lymph node1 / 9161010
mammary gland19 / 153271123
mouth2 / 6705229
muscle0 / 1077150 
nerve2 / 15768126
ovary51 / 102051499
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate6 / 18934531
salivary gland1 / 2015549
skin7 / 21057433
spleen0 / 539520 
stomach4 / 9661941
testis34 / 330442102
thymus1 / 8113112
thyroid2 / 4747342
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: 203192_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.75
Adipocyte9.3
AdrenalCortex8.45
Adrenalgland6.85
Amygdala8.65
Appendix8.05
AtrioventricularNode6.1
BDCA4+_DentriticCells8.5
Bonemarrow10.2
BronchialEpithelialCells8.05
CD105+_Endothelial17.6
CD14+_Monocytes6.85
CD19+_BCells(neg._sel.)8.35
CD33+_Myeloid9.05
CD34+10.7
CD4+_Tcells8.95
CD56+_NKCells8.1
CD71+_EarlyErythroid387.75
CD8+_Tcells6.8
CardiacMyocytes11.1
Caudatenucleus7.65
Cerebellum6.7
CerebellumPeduncles9.3
CiliaryGanglion5.7
CingulateCortex8.35
Colorectaladenocarcinoma8.2
DorsalRootGanglion6.15
FetalThyroid8
Fetalbrain8.2
Fetalliver17.6
Fetallung6.8
GlobusPallidus7.35
Heart9.75
Hypothalamus10.5
Kidney7.4
Leukemia_chronicMyelogenousK-5627.45
Leukemia_promyelocytic-HL-607.25
Leukemialymphoblastic(MOLT-4)6.5
Liver11
Lung8.5
Lymphnode7.1
Lymphoma_burkitts(Daudi)11.7
Lymphoma_burkitts(Raji)11.35
MedullaOblongata7.75
OccipitalLobe7.4
OlfactoryBulb6.8
Ovary5.45
Pancreas5.85
PancreaticIslet6.95
ParietalLobe8.75
Pituitary10.4
Placenta8.35
Pons8.6
PrefrontalCortex12.4
Prostate12.2
Salivarygland6.45
SkeletalMuscle8.95
Skin6.15
SmoothMuscle9.25
Spinalcord8.8
SubthalamicNucleus8
SuperiorCervicalGanglion9.5
TemporalLobe7.4
Testis12.05
TestisGermCell7.2
TestisIntersitial8.9
TestisLeydigCell9.95
TestisSeminiferousTubule10.15
Thalamus9.4
Thymus6.15
Thyroid11.55
Tongue9.55
Tonsil8
Trachea6.75
TrigeminalGanglion7.75
Uterus6.7
UterusCorpus7.05
WholeBlood4.7
Wholebrain7.15
colon7.8
pineal_day10.64
pineal_night10
retina9.85
small_intestine7.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P197196
  • 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
Amygdala6.25 ± 0.42
Basal Forebrain6.38 ± 0.26
Basal Part of Pons6.55 ± 0.32
Cerebellar Cortex6.32 ± 0.39
Cerebellar Nuclei6.05 ± 0.23
Claustrum6.09 ± 0.62
Epithalamus6.69 ± 0.45
Frontal Lobe6.53 ± 0.36
Globus Pallidus5.89 ± 0.29
Hypothalamus6.81 ± 0.27
Insula6.55 ± 0.34
Limbic Lobe6.39 ± 0.47
Mesencephalon6.32 ± 0.37
Myelencephalon6.33 ± 0.46
Occipital Lobe6.01 ± 0.41
Parietal Lobe6.3 ± 0.38
Pontine Tegmentum6.41 ± 0.43
Striatum6.49 ± 0.51
Subthalamus6.49 ± 0.49
Temporal Lobe6.55 ± 0.35
Thalamus6.25 ± 0.39
White Matter5.52 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abcb6CBCerebellum11.61
13.32
Abcb6CTXCerebral cortex59.02
53.74
Abcb6HIPHippocampal region24.72
37.5
Abcb6HPFHippocampal formation29.06
33.75
Abcb6HYHypothalamus6.16
4.04
Abcb6LSXLateral septal complex6.71
4.16
Abcb6MBMidbrain10.42
9.73
Abcb6MYMedulla18.47
19.47
Abcb6OLFOlfactory bulb26.87
19.19
Abcb6PPons17.83
18.19
Abcb6PALPallidum9.57
7.94
Abcb6RHPRetrohippocampal region36.42
30.98
Abcb6sAMYStriatum-like amygdalar nuclei15.85
11.19
Abcb6STRStriatum10.35
7.82
Abcb6STRdStriatum dorsal region10.18
8.58
Abcb6STRvStriatum ventral region10.31
5.94
Abcb6THThalamus7.14
5.79
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00375556 20 744 763 APGIILLDEATSALDTSNER 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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