AutismKB 2.0

Annotation Detail for ABCB8


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Basic Information Top
Gene Symbol:ABCB8 ( EST328128,M-ABC1,MABC1 )
Gene Full Name: ATP-binding cassette, sub-family B (MDR/TAP), member 8
Band: 7q36.1
Quick LinksEntrez ID:11194; OMIM: 605464; Uniprot ID:ABCB8_HUMAN; ENSEMBL ID: ENSG00000197150; HGNC ID: 49
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
blastocyst2 / 6231932
fetus39 / 56401269
neonate12 / 31097385
infant1 / 2362042
juvenile14 / 55556251
adult112 / 193912157
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) tumor10 / 94178106
cervical tumor4 / 34366116
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor11 / 11936992
germ cell tumor16 / 26384560
glioma13 / 106883121
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia12 / 95842125
liver tumor10 / 96359103
lung tumor5 / 10312748
lymphoma6 / 7175583
non-neoplasia6 / 9725061
normal267 / 336030779
ovarian tumor5 / 7668265
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor13 / 124949104
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites6 / 40015149
bladder0 / 297570 
blood8 / 12347864
bone4 / 7165555
bone marrow7 / 48801143
brain123 / 1100989111
cervix8 / 48171166
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye13 / 21105461
heart6 / 8962666
intestine15 / 23447263
kidney23 / 211777108
larynx0 / 241450 
liver13 / 20774362
lung11 / 33697432
lymph0 / 442700 
lymph node7 / 9161076
mammary gland10 / 15327165
mouth4 / 6705259
muscle2 / 10771518
nerve2 / 15768126
ovary4 / 10205139
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta22 / 28082578
prostate14 / 18934573
salivary gland1 / 2015549
skin26 / 210574123
spleen6 / 53952111
stomach8 / 9661982
testis23 / 33044269
thymus17 / 81131209
thyroid4 / 4747384
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord2 / 13680146
uterus10 / 23287842
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206317_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts3.35
Adipocyte2.55
AdrenalCortex2.65
Adrenalgland2.15
Amygdala2.8
Appendix2.55
AtrioventricularNode1.9
BDCA4+_DentriticCells3
Bonemarrow2.5
BronchialEpithelialCells2.6
CD105+_Endothelial2.65
CD14+_Monocytes2.8
CD19+_BCells(neg._sel.)2.85
CD33+_Myeloid3.4
CD34+3.4
CD4+_Tcells2.9
CD56+_NKCells3.2
CD71+_EarlyErythroid2.4
CD8+_Tcells2.6
CardiacMyocytes3.15
Caudatenucleus2.3
Cerebellum2.1
CerebellumPeduncles2.9
CiliaryGanglion1.75
CingulateCortex2.65
Colorectaladenocarcinoma2.6
DorsalRootGanglion1.95
FetalThyroid2.55
Fetalbrain2.6
Fetalliver2.2
Fetallung2.2
GlobusPallidus1.85
Heart3.2
Hypothalamus2.9
Kidney2.05
Leukemia_chronicMyelogenousK-5622.35
Leukemia_promyelocytic-HL-602.3
Leukemialymphoblastic(MOLT-4)2.1
Liver3.35
Lung2.9
Lymphnode2.25
Lymphoma_burkitts(Daudi)3.3
Lymphoma_burkitts(Raji)3.55
MedullaOblongata2.4
OccipitalLobe2.3
OlfactoryBulb2.05
Ovary1.7
Pancreas2.1
PancreaticIslet2.75
ParietalLobe2.65
Pituitary3.05
Placenta2.75
Pons2.45
PrefrontalCortex3.3
Prostate3.05
Salivarygland2.05
SkeletalMuscle2.95
Skin1.9
SmoothMuscle2.95
Spinalcord2.8
SubthalamicNucleus2.35
SuperiorCervicalGanglion2.85
TemporalLobe2.35
Testis2.25
TestisGermCell2.25
TestisIntersitial2.15
TestisLeydigCell2.5
TestisSeminiferousTubule2.25
Thalamus2.6
Thymus2.1
Thyroid3.3
Tongue2.45
Tonsil2.5
Trachea2.15
TrigeminalGanglion2.5
Uterus2.15
UterusCorpus2.3
WholeBlood2.85
Wholebrain2.25
colon2.6
pineal_day3.28
pineal_night3.2
retina3.175
small_intestine2.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15604_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
Amygdala2.86 ± 0.9
Basal Forebrain2.14 ± 0.37
Basal Part of Pons2.19 ± 0.29
Cerebellar Cortex2.86 ± 0.61
Cerebellar Nuclei2.57 ± 0.71
Claustrum2.56 ± 0.65
Epithalamus2.47 ± 0.63
Frontal Lobe2.45 ± 0.69
Globus Pallidus2.11 ± 0.71
Hypothalamus2.47 ± 0.57
Insula2.2 ± 0.69
Limbic Lobe2.44 ± 0.62
Mesencephalon2.59 ± 0.69
Myelencephalon2.52 ± 0.67
Occipital Lobe2.31 ± 0.62
Parietal Lobe2.49 ± 0.7
Pontine Tegmentum2.5 ± 0.66
Striatum2.26 ± 0.56
Subthalamus2.51 ± 0.76
Temporal Lobe2.57 ± 0.69
Thalamus2.44 ± 0.61
White Matter2.79 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abcb8CBCerebellum16.47
19.96
Abcb8CTXCerebral cortex20.49
14.11
Abcb8HIPHippocampal region18.2
19.45
Abcb8HPFHippocampal formation22.68
20.32
Abcb8HYHypothalamus3.74
2.88
Abcb8LSXLateral septal complex6.22
4.52
Abcb8MBMidbrain9.12
8.6
Abcb8MYMedulla32.3
32.82
Abcb8OLFOlfactory bulb15.94
10.96
Abcb8PPons12.43
13.65
Abcb8PALPallidum8
7.41
Abcb8RHPRetrohippocampal region30.64
22.19
Abcb8sAMYStriatum-like amygdalar nuclei2.63
1.88
Abcb8STRStriatum10.38
7.2
Abcb8STRdStriatum dorsal region13.57
9.71
Abcb8STRvStriatum ventral region6.07
3.54
Abcb8THThalamus7.72
6.42
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00762696 12 485 496 IVALVGQSGGGK 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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