AutismKB 2.0

Annotation Detail for ABCC8


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Basic Information Top
Gene Symbol:ABCC8 ( ABC36,HHF1,HI,HRINS,MRP8,PHHI,SUR,SUR1,TNDM2 )
Gene Full Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Band: 11p15.1
Quick LinksEntrez ID:6833; OMIM: 600509; Uniprot ID:ABCC8_HUMAN; ENSEMBL ID: ENSG00000006071; HGNC ID: 59
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 
fetus6 / 56401210
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult23 / 193912111
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal231 / 336030768
ovarian tumor0 / 766820 
pancreatic tumor44 / 104616420
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain23 / 110098920
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart2 / 8962622
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung28 / 33697483
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas246 / 2148121145
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210246_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.9
Adipocyte3.85
AdrenalCortex4.1
Adrenalgland3.3
Amygdala5.25
Appendix3.9
AtrioventricularNode3
BDCA4+_DentriticCells4.25
Bonemarrow4.55
BronchialEpithelialCells3.85
CD105+_Endothelial3.95
CD14+_Monocytes4.15
CD19+_BCells(neg._sel.)4.15
CD33+_Myeloid5
CD34+4.9
CD4+_Tcells4.25
CD56+_NKCells4.65
CD71+_EarlyErythroid3.65
CD8+_Tcells3.8
CardiacMyocytes4.95
Caudatenucleus3.55
Cerebellum4.25
CerebellumPeduncles9.65
CiliaryGanglion2.7
CingulateCortex4.15
Colorectaladenocarcinoma3.95
DorsalRootGanglion3
FetalThyroid3.85
Fetalbrain4.15
Fetalliver3.45
Fetallung3.25
GlobusPallidus3.15
Heart5.6
Hypothalamus4.25
Kidney3.2
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.45
Leukemialymphoblastic(MOLT-4)3.15
Liver6.05
Lung4.3
Lymphnode3.35
Lymphoma_burkitts(Daudi)5
Lymphoma_burkitts(Raji)5.4
MedullaOblongata3.65
OccipitalLobe4.7
OlfactoryBulb3.1
Ovary2.6
Pancreas4.4
PancreaticIslet15.65
ParietalLobe4.2
Pituitary6.1
Placenta4
Pons3.7
PrefrontalCortex6
Prostate4.55
Salivarygland3.1
SkeletalMuscle4.6
Skin3
SmoothMuscle4.45
Spinalcord4.2
SubthalamicNucleus3.75
SuperiorCervicalGanglion4.45
TemporalLobe3.7
Testis3.35
TestisGermCell3.25
TestisIntersitial3.25
TestisLeydigCell3.85
TestisSeminiferousTubule3.4
Thalamus4
Thymus3.1
Thyroid4.9
Tongue3.85
Tonsil3.8
Trachea3.3
TrigeminalGanglion3.85
Uterus3.2
UterusCorpus3.55
WholeBlood4.3
Wholebrain4.75
colon3.95
pineal_day97.62
pineal_night58.88
retina4.725
small_intestine3.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16227_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
Amygdala8.16 ± 0.67
Basal Forebrain7.96 ± 0.19
Basal Part of Pons9.12 ± 0.18
Cerebellar Cortex9 ± 0.32
Cerebellar Nuclei8.3 ± 0.7
Claustrum8.63 ± 0.55
Epithalamus7.19 ± 0.57
Frontal Lobe8.41 ± 0.5
Globus Pallidus7.13 ± 0.38
Hypothalamus8.2 ± 0.38
Insula8.47 ± 0.47
Limbic Lobe8.54 ± 0.59
Mesencephalon8.18 ± 0.47
Myelencephalon8.3 ± 0.72
Occipital Lobe9.02 ± 0.63
Parietal Lobe8.59 ± 0.5
Pontine Tegmentum8.25 ± 0.49
Striatum7.54 ± 0.6
Subthalamus8.52 ± 0.24
Temporal Lobe8.48 ± 0.44
Thalamus8.02 ± 0.39
White Matter6.75 ± 0.61
Mouse Brain ISH
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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