AutismKB 2.0

Annotation Detail for ABCD3


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Basic Information Top
Gene Symbol:ABCD3 ( ABC43,PMP70,PXMP1,ZWS2 )
Gene Full Name: ATP-binding cassette, sub-family D (ALD), member 3
Band: 1p21.3
Quick LinksEntrez ID:5825; OMIM: 170995; Uniprot ID:ABCD3_HUMAN; ENSEMBL ID: ENSG00000117528; HGNC ID: 67
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
blastocyst3 / 6231948
fetus45 / 56401279
neonate0 / 310970 
infant1 / 2362042
juvenile3 / 5555653
adult124 / 193912163
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor2 / 17290115
gastrointestinal tumor1 / 1193698
germ cell tumor29 / 263845109
glioma3 / 10688328
head and neck tumor10 / 13630273
kidney tumor6 / 6895987
leukemia3 / 9584231
liver tumor11 / 96359114
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia7 / 9725071
normal232 / 336030769
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor6 / 12494948
soft tissue/muscle tissue tumor23 / 125191183
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites1 / 4001524
bladder3 / 29757100
blood2 / 12347816
bone2 / 7165527
bone marrow1 / 4880120
brain125 / 1100989113
cervix0 / 481710 
connective tissue22 / 149255147
ear1 / 1621261
embryonic tissue8 / 21572237
esophagus2 / 2020998
eye9 / 21105442
heart4 / 8962644
intestine11 / 23447246
kidney16 / 21177775
larynx0 / 241450 
liver19 / 20774391
lung20 / 33697459
lymph1 / 4427022
lymph node1 / 9161010
mammary gland2 / 15327113
mouth11 / 67052164
muscle10 / 10771592
nerve0 / 157680 
ovary3 / 10205129
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta21 / 28082574
prostate6 / 18934531
salivary gland1 / 2015549
skin11 / 21057452
spleen2 / 5395237
stomach0 / 966190 
testis48 / 330442145
thymus33 / 81131406
thyroid0 / 474730 
tonsil0 / 169990 
trachea43 / 52413820
umbilical cord0 / 136800 
uterus17 / 23287872
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202850_at
Cell line Expression level Expression bar
721_B_lymphoblasts75.35
Adipocyte36.8
AdrenalCortex54.25
Adrenalgland33.65
Amygdala218.75
Appendix40.45
AtrioventricularNode18.2
BDCA4+_DentriticCells37.4
Bonemarrow25.75
BronchialEpithelialCells94.05
CD105+_Endothelial91.15
CD14+_Monocytes43.45
CD19+_BCells(neg._sel.)25.55
CD33+_Myeloid76.8
CD34+82
CD4+_Tcells55.35
CD56+_NKCells55.25
CD71+_EarlyErythroid38.5
CD8+_Tcells56.35
CardiacMyocytes31.55
Caudatenucleus63.7
Cerebellum20.6
CerebellumPeduncles39.5
CiliaryGanglion26.3
CingulateCortex34.55
Colorectaladenocarcinoma35.75
DorsalRootGanglion40.75
FetalThyroid36.45
Fetalbrain149.45
Fetalliver301.95
Fetallung53.1
GlobusPallidus23.55
Heart21.3
Hypothalamus138.25
Kidney47.7
Leukemia_chronicMyelogenousK-56224.5
Leukemia_promyelocytic-HL-6089.4
Leukemialymphoblastic(MOLT-4)99.15
Liver25.65
Lung13.55
Lymphnode23.1
Lymphoma_burkitts(Daudi)58.65
Lymphoma_burkitts(Raji)40.9
MedullaOblongata39.65
OccipitalLobe58.95
OlfactoryBulb101.65
Ovary20.3
Pancreas40.65
PancreaticIslet80
ParietalLobe39.5
Pituitary81.45
Placenta36.55
Pons28.55
PrefrontalCortex156.9
Prostate94.9
Salivarygland36.3
SkeletalMuscle23
Skin35.95
SmoothMuscle80.9
Spinalcord110.45
SubthalamicNucleus38.8
SuperiorCervicalGanglion16.65
TemporalLobe26.3
Testis21.85
TestisGermCell57.65
TestisIntersitial23.75
TestisLeydigCell26.4
TestisSeminiferousTubule21.95
Thalamus62.15
Thymus82.95
Thyroid154.6
Tongue55.2
Tonsil36.95
Trachea54.35
TrigeminalGanglion39.9
Uterus68.2
UterusCorpus22.2
WholeBlood39.35
Wholebrain35.5
colon287.6
pineal_day253.9
pineal_night239.5
retina108.625
small_intestine153.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P74794
  • 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
Amygdala4.55 ± 0.52
Basal Forebrain4.84 ± 0.21
Basal Part of Pons4.89 ± 0.3
Cerebellar Cortex4.73 ± 0.44
Cerebellar Nuclei5.01 ± 0.65
Claustrum4.47 ± 0.77
Epithalamus4.88 ± 0.52
Frontal Lobe4.82 ± 0.51
Globus Pallidus5.5 ± 0.41
Hypothalamus4.76 ± 0.55
Insula4.66 ± 0.27
Limbic Lobe4.66 ± 0.48
Mesencephalon4.86 ± 0.5
Myelencephalon4.84 ± 0.5
Occipital Lobe4.85 ± 0.39
Parietal Lobe4.76 ± 0.5
Pontine Tegmentum4.79 ± 0.49
Striatum5.01 ± 0.46
Subthalamus4.49 ± 0.55
Temporal Lobe4.76 ± 0.42
Thalamus5.08 ± 0.39
White Matter5.93 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abcd3CBCerebellum9.25
11.65
Abcd3CTXCerebral cortex0.41
0.43
Abcd3HIPHippocampal region1.98
1.6
Abcd3HPFHippocampal formation1.59
1.42
Abcd3HYHypothalamus0.23
0.18
Abcd3LSXLateral septal complex1.12
0.98
Abcd3MBMidbrain0.73
1.4
Abcd3MYMedulla3.29
3.41
Abcd3OLFOlfactory bulb7.67
6.89
Abcd3PPons3.31
3.31
Abcd3PALPallidum0.18
0.17
Abcd3RHPRetrohippocampal region0.85
1.23
Abcd3sAMYStriatum-like amygdalar nuclei0.1
0.15
Abcd3STRStriatum0.37
0.41
Abcd3STRdStriatum dorsal region0.22
0.37
Abcd3STRvStriatum ventral region0.39
0.3
Abcd3THThalamus0.47
0.42
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ABCD3_HUMAN_2 10 2 11 AAFSKYLTAR PRIDE
ABCD3_HUMAN_512 9 512 520 PYMTLGTLR PRIDE
ABCD3_HUMAN_521 9 521 529 DQVIYPDGR PRIDE
PAp00008997 14 161 174 YLYEEYLQAFTYYK 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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