AutismKB 2.0

Annotation Detail for ABCA4


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Basic Information Top
Gene Symbol:ABCA4 ( ABC10,ABCR,ARMD2,CORD3,DKFZp781N1972,FFM,FLJ17534,RMP,RP19,STGD,STGD1 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 4
Band: 1p22.1
Quick LinksEntrez ID:24; OMIM: 601691; Uniprot ID:ABCA4_HUMAN; ENSEMBL ID: ENSG00000198691; HGNC ID: 34
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 body1 / 7076114
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult83 / 193912142
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal112 / 336030733
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain12 / 110098910
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye65 / 211054307
heart1 / 8962611
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle14 / 107715129
nerve0 / 157680 
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210082_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.2
Adipocyte3.3
AdrenalCortex3.65
Adrenalgland2.85
Amygdala3.55
Appendix3.35
AtrioventricularNode2.55
BDCA4+_DentriticCells3.7
Bonemarrow3.5
BronchialEpithelialCells3.3
CD105+_Endothelial3.3
CD14+_Monocytes3.55
CD19+_BCells(neg._sel.)3.6
CD33+_Myeloid4.25
CD34+4.2
CD4+_Tcells3.7
CD56+_NKCells4.05
CD71+_EarlyErythroid3.15
CD8+_Tcells3.25
CardiacMyocytes4.25
Caudatenucleus2.95
Cerebellum2.7
CerebellumPeduncles3.8
CiliaryGanglion2.35
CingulateCortex3.4
Colorectaladenocarcinoma3.35
DorsalRootGanglion2.5
FetalThyroid3.25
Fetalbrain3.35
Fetalliver2.9
Fetallung2.8
GlobusPallidus2.45
Heart4.25
Hypothalamus3.65
Kidney2.9
Leukemia_chronicMyelogenousK-5623.05
Leukemia_promyelocytic-HL-602.9
Leukemialymphoblastic(MOLT-4)2.7
Liver4.35
Lung3.65
Lymphnode2.9
Lymphoma_burkitts(Daudi)4.25
Lymphoma_burkitts(Raji)4.6
MedullaOblongata3.05
OccipitalLobe3
OlfactoryBulb2.65
Ovary2.2
Pancreas2.65
PancreaticIslet3.55
ParietalLobe3.55
Pituitary3.9
Placenta3.5
Pons3.15
PrefrontalCortex4.15
Prostate3.9
Salivarygland2.7
SkeletalMuscle3.8
Skin2.55
SmoothMuscle3.8
Spinalcord4.55
SubthalamicNucleus3.05
SuperiorCervicalGanglion3.75
TemporalLobe3
Testis2.9
TestisGermCell2.75
TestisIntersitial2.8
TestisLeydigCell3.3
TestisSeminiferousTubule2.9
Thalamus3.35
Thymus2.65
Thyroid4.25
Tongue3.25
Tonsil3.25
Trachea2.8
TrigeminalGanglion3.35
Uterus2.75
UterusCorpus2.95
WholeBlood3.7
Wholebrain2.85
colon3.35
pineal_day4.16
pineal_night4.1
retina232.475
small_intestine3.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P160940
  • 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
Amygdala3.05 ± 1.2
Basal Forebrain2.13 ± 0.3
Basal Part of Pons2.36 ± 0.72
Cerebellar Cortex2.3 ± 0.87
Cerebellar Nuclei2.57 ± 0.71
Claustrum3.06 ± 0.79
Epithalamus2.38 ± 0.82
Frontal Lobe2.36 ± 0.83
Globus Pallidus2.88 ± 0.92
Hypothalamus2.51 ± 0.9
Insula2.54 ± 0.67
Limbic Lobe2.45 ± 0.85
Mesencephalon2.61 ± 0.78
Myelencephalon2.56 ± 0.8
Occipital Lobe2.38 ± 0.98
Parietal Lobe2.7 ± 0.83
Pontine Tegmentum2.58 ± 0.89
Striatum2.75 ± 0.95
Subthalamus2.42 ± 0.45
Temporal Lobe2.57 ± 0.77
Thalamus2.71 ± 0.81
White Matter3.38 ± 0.75
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abca4CBCerebellum4.55
4.96
Abca4CTXCerebral cortex2.34
1.38
Abca4HIPHippocampal region2.34
2.33
Abca4HPFHippocampal formation1.99
1.95
Abca4HYHypothalamus2.9
2.33
Abca4LSXLateral septal complex3.57
5
Abca4MBMidbrain4.45
4.98
Abca4MYMedulla12.85
15.21
Abca4OLFOlfactory bulb7.18
4.24
Abca4PPons2.74
1.95
Abca4PALPallidum2.93
1.74
Abca4RHPRetrohippocampal region1.38
1.44
Abca4sAMYStriatum-like amygdalar nuclei5.06
6.74
Abca4STRStriatum2.14
2
Abca4STRdStriatum dorsal region1.86
1.48
Abca4STRvStriatum ventral region1.32
0.74
Abca4THThalamus6.64
7.92
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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