AutismKB 2.0

Annotation Detail for ABCA2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ABCA2 ( ABC2,MGC129761 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 2
Band: 9q34.3
Quick LinksEntrez ID:20; OMIM: 600047; Uniprot ID:Q9HC28_HUMAN; ENSEMBL ID: ENSG00000107331; HGNC ID: 32
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 body4 / 7076156
blastocyst1 / 6231916
fetus13 / 56401223
neonate2 / 3109764
infant1 / 2362042
juvenile2 / 5555635
adult190 / 193912197
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor5 / 26384518
glioma6 / 10688356
head and neck tumor4 / 13630229
kidney tumor16 / 68959232
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal323 / 336030796
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer4 / 10268038
retinoblastoma2 / 4635643
skin tumor5 / 12494940
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites3 / 4001574
bladder1 / 2975733
blood8 / 12347864
bone4 / 7165555
bone marrow0 / 488010 
brain288 / 1100989261
cervix2 / 4817141
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye13 / 21105461
heart2 / 8962622
intestine15 / 23447263
kidney16 / 21177775
larynx1 / 2414541
liver1 / 2077434
lung12 / 33697435
lymph0 / 442700 
lymph node2 / 9161021
mammary gland6 / 15327139
mouth0 / 670520 
muscle0 / 1077150 
nerve3 / 15768190
ovary2 / 10205119
pancreas13 / 21481260
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate8 / 18934542
salivary gland0 / 201550 
skin7 / 21057433
spleen2 / 5395237
stomach16 / 96619165
testis7 / 33044221
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210100_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.75
Adipocyte5.55
AdrenalCortex5.1
Adrenalgland4.35
Amygdala56.25
Appendix5.55
AtrioventricularNode4.2
BDCA4+_DentriticCells6.35
Bonemarrow5.45
BronchialEpithelialCells5.55
CD105+_Endothelial5.5
CD14+_Monocytes5.95
CD19+_BCells(neg._sel.)5.95
CD33+_Myeloid7.1
CD34+8.2
CD4+_Tcells6.4
CD56+_NKCells8.9
CD71+_EarlyErythroid5.2
CD8+_Tcells13.85
CardiacMyocytes7.3
Caudatenucleus61.5
Cerebellum4.6
CerebellumPeduncles8.1
CiliaryGanglion3.95
CingulateCortex12.1
Colorectaladenocarcinoma5.65
DorsalRootGanglion4.25
FetalThyroid5.35
Fetalbrain6
Fetalliver4.6
Fetallung4.5
GlobusPallidus6.7
Heart7.4
Hypothalamus21.4
Kidney4.1
Leukemia_chronicMyelogenousK-5625.1
Leukemia_promyelocytic-HL-604.95
Leukemialymphoblastic(MOLT-4)4.55
Liver7.3
Lung6.05
Lymphnode4.85
Lymphoma_burkitts(Daudi)7.1
Lymphoma_burkitts(Raji)7.85
MedullaOblongata23.75
OccipitalLobe19.75
OlfactoryBulb8.4
Ovary3.7
Pancreas4.5
PancreaticIslet5.95
ParietalLobe26.1
Pituitary6.5
Placenta5.6
Pons21.5
PrefrontalCortex169.3
Prostate6.6
Salivarygland3.95
SkeletalMuscle6.5
Skin4.25
SmoothMuscle6.4
Spinalcord42.1
SubthalamicNucleus12.8
SuperiorCervicalGanglion6.25
TemporalLobe5.15
Testis4.75
TestisGermCell4.75
TestisIntersitial4.7
TestisLeydigCell5.5
TestisSeminiferousTubule4.8
Thalamus5.65
Thymus4.3
Thyroid8.4
Tongue5.4
Tonsil5.4
Trachea4.6
TrigeminalGanglion5.5
Uterus4.55
UterusCorpus4.95
WholeBlood6.05
Wholebrain12.7
colon5.6
pineal_day7.3
pineal_night6.86
retina9.925
small_intestine5.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P43504
  • 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
Amygdala6.22 ± 0.5
Basal Forebrain6.48 ± 0.34
Basal Part of Pons6.77 ± 0.59
Cerebellar Cortex6.33 ± 0.46
Cerebellar Nuclei7.14 ± 0.55
Claustrum6.15 ± 0.48
Epithalamus6.15 ± 0.58
Frontal Lobe6.42 ± 0.65
Globus Pallidus7.4 ± 0.37
Hypothalamus5.7 ± 0.32
Insula5.96 ± 0.58
Limbic Lobe6.33 ± 0.51
Mesencephalon6.37 ± 0.63
Myelencephalon6.52 ± 0.56
Occipital Lobe6.41 ± 0.47
Parietal Lobe6.33 ± 0.49
Pontine Tegmentum6.42 ± 0.63
Striatum6.52 ± 0.45
Subthalamus6.37 ± 0.19
Temporal Lobe6.35 ± 0.5
Thalamus6.66 ± 0.51
White Matter8.68 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abca2CBCerebellum100
100
Abca2CTXCerebral cortex100
100
Abca2HIPHippocampal region83.34
100
Abca2HPFHippocampal formation100
100
Abca2HYHypothalamus100
100
Abca2LSXLateral septal complex100
100
Abca2MBMidbrain100
100
Abca2MYMedulla100
100
Abca2OLFOlfactory bulb100
100
Abca2PPons100
100
Abca2PALPallidum100
100
Abca2RHPRetrohippocampal region100
100
Abca2sAMYStriatum-like amygdalar nuclei100
100
Abca2STRStriatum100
100
Abca2STRdStriatum dorsal region100
100
Abca2STRvStriatum ventral region100
96.49
Abca2THThalamus100
100
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved