AutismKB 2.0

Annotation Detail for ABCA1


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Basic Information Top
Gene Symbol:ABCA1 ( ABC-1,ABC1,CERP,FLJ14958,HDLDT1,MGC164864,MGC165011,TGD )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 1
Band: 9q31.1
Quick LinksEntrez ID:19; OMIM: 600046; Uniprot ID:ABCA1_HUMAN; ENSEMBL ID: ENSG00000165029; HGNC ID: 29
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
blastocyst0 / 623190 
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult66 / 193912134
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor1 / 2638453
glioma8 / 10688374
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal89 / 336030726
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone1 / 7165513
bone marrow1 / 4880120
brain28 / 110098925
cervix0 / 481710 
connective tissue0 / 1492550 
ear5 / 16212308
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine2 / 2344728
kidney10 / 21177747
larynx1 / 2414541
liver7 / 20774333
lung7 / 33697420
lymph0 / 442700 
lymph node5 / 9161054
mammary gland2 / 15327113
mouth1 / 6705214
muscle4 / 10771537
nerve2 / 15768126
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta15 / 28082553
prostate3 / 18934515
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach7 / 9661972
testis4 / 33044212
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus7 / 23287830
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203504_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.35
Adipocyte30.4
AdrenalCortex13.95
Adrenalgland15.9
Amygdala5.9
Appendix9.7
AtrioventricularNode4.4
BDCA4+_DentriticCells6.05
Bonemarrow5.45
BronchialEpithelialCells5.7
CD105+_Endothelial5.55
CD14+_Monocytes5.8
CD19+_BCells(neg._sel.)8.2
CD33+_Myeloid6.9
CD34+6.7
CD4+_Tcells5.7
CD56+_NKCells6.4
CD71+_EarlyErythroid5.05
CD8+_Tcells5.05
CardiacMyocytes10.5
Caudatenucleus5
Cerebellum4.5
CerebellumPeduncles6.25
CiliaryGanglion4.4
CingulateCortex5.75
Colorectaladenocarcinoma5.45
DorsalRootGanglion4.65
FetalThyroid5.35
Fetalbrain6.7
Fetalliver79
Fetallung15.2
GlobusPallidus4.2
Heart7.75
Hypothalamus6.15
Kidney4.75
Leukemia_chronicMyelogenousK-5624.95
Leukemia_promyelocytic-HL-604.9
Leukemialymphoblastic(MOLT-4)4.3
Liver7.75
Lung5.95
Lymphnode6.3
Lymphoma_burkitts(Daudi)7.25
Lymphoma_burkitts(Raji)7.95
MedullaOblongata5.1
OccipitalLobe4.9
OlfactoryBulb9.25
Ovary3.8
Pancreas4.6
PancreaticIslet6
ParietalLobe5.8
Pituitary6.45
Placenta16.7
Pons5.35
PrefrontalCortex6.9
Prostate6.35
Salivarygland4.6
SkeletalMuscle7.1
Skin4.95
SmoothMuscle93.05
Spinalcord7.05
SubthalamicNucleus5.15
SuperiorCervicalGanglion6.7
TemporalLobe5.1
Testis4.75
TestisGermCell6.15
TestisIntersitial4.7
TestisLeydigCell5.5
TestisSeminiferousTubule4.75
Thalamus5.65
Thymus4.25
Thyroid7.05
Tongue6.1
Tonsil5.4
Trachea4.65
TrigeminalGanglion6.05
Uterus6.45
UterusCorpus45.8
WholeBlood22.25
Wholebrain4.45
colon18.6
pineal_day6.92
pineal_night7.18
retina16.1
small_intestine5.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P235429
  • 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
Amygdala5.79 ± 0.49
Basal Forebrain6.59 ± 0.2
Basal Part of Pons4.58 ± 0.37
Cerebellar Cortex4.9 ± 0.39
Cerebellar Nuclei5.04 ± 0.61
Claustrum4.95 ± 0.82
Epithalamus6.59 ± 0.49
Frontal Lobe5.37 ± 0.6
Globus Pallidus7.99 ± 0.93
Hypothalamus6.06 ± 0.36
Insula5.63 ± 0.28
Limbic Lobe5.27 ± 0.85
Mesencephalon6.17 ± 0.81
Myelencephalon5.78 ± 0.83
Occipital Lobe6.03 ± 0.56
Parietal Lobe5.48 ± 0.63
Pontine Tegmentum5.73 ± 0.5
Striatum7.26 ± 0.81
Subthalamus4.97 ± 0.33
Temporal Lobe5.43 ± 0.49
Thalamus6.09 ± 0.64
White Matter5.2 ± 1.14
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