AutismKB 2.0

Annotation Detail for ABCD4


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Basic Information Top
Gene Symbol:ABCD4 ( ABC41,EST352188,P70R,P79R,PMP69,PXMP1L )
Gene Full Name: ATP-binding cassette, sub-family D (ALD), member 4
Band: 14q24.3
Quick LinksEntrez ID:5826; OMIM: 603214; Uniprot ID:ABCD4_HUMAN; ENSEMBL ID: ENSG00000119688; HGNC ID: 68
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
blastocyst6 / 6231996
fetus50 / 56401288
neonate1 / 3109732
infant1 / 2362042
juvenile2 / 5555635
adult111 / 193912157
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) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor7 / 26384526
glioma10 / 10688393
head and neck tumor8 / 13630258
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor8 / 10312777
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal240 / 336030771
ovarian tumor4 / 7668252
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer0 / 1026800 
retinoblastoma4 / 4635686
skin tumor4 / 12494932
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder3 / 29757100
blood5 / 12347840
bone1 / 7165513
bone marrow0 / 488010 
brain96 / 110098987
cervix6 / 48171124
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye13 / 21105461
heart8 / 8962689
intestine12 / 23447251
kidney11 / 21177751
larynx0 / 241450 
liver2 / 2077439
lung20 / 33697459
lymph1 / 4427022
lymph node3 / 9161032
mammary gland8 / 15327152
mouth8 / 67052119
muscle5 / 10771546
nerve0 / 157680 
ovary5 / 10205148
pancreas16 / 21481274
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta16 / 28082556
prostate7 / 18934536
salivary gland1 / 2015549
skin7 / 21057433
spleen7 / 53952129
stomach7 / 9661972
testis13 / 33044239
thymus6 / 8113173
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus11 / 23287847
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203981_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts23.7
Adipocyte16.15
AdrenalCortex17.25
Adrenalgland15.2
Amygdala17.25
Appendix17.7
AtrioventricularNode12.85
BDCA4+_DentriticCells46.15
Bonemarrow15.1
BronchialEpithelialCells9.9
CD105+_Endothelial13.7
CD14+_Monocytes17.85
CD19+_BCells(neg._sel.)23.3
CD33+_Myeloid21.7
CD34+25.8
CD4+_Tcells42.05
CD56+_NKCells21
CD71+_EarlyErythroid14.7
CD8+_Tcells61.45
CardiacMyocytes18.05
Caudatenucleus15.45
Cerebellum13.15
CerebellumPeduncles19.35
CiliaryGanglion13.15
CingulateCortex16.85
Colorectaladenocarcinoma23.1
DorsalRootGanglion15.85
FetalThyroid16.65
Fetalbrain40.65
Fetalliver14.4
Fetallung22.05
GlobusPallidus11.9
Heart18.6
Hypothalamus37.25
Kidney19.4
Leukemia_chronicMyelogenousK-56215.65
Leukemia_promyelocytic-HL-6015.5
Leukemialymphoblastic(MOLT-4)37.1
Liver22.25
Lung18.5
Lymphnode43.45
Lymphoma_burkitts(Daudi)24.95
Lymphoma_burkitts(Raji)22.9
MedullaOblongata15.7
OccipitalLobe14.75
OlfactoryBulb17.9
Ovary10.7
Pancreas13.6
PancreaticIslet14.9
ParietalLobe15.1
Pituitary19.1
Placenta18.05
Pons16.2
PrefrontalCortex20.75
Prostate20.55
Salivarygland13.6
SkeletalMuscle19.4
Skin12.7
SmoothMuscle11.8
Spinalcord18.4
SubthalamicNucleus12.85
SuperiorCervicalGanglion19.4
TemporalLobe14.75
Testis15
TestisGermCell27.75
TestisIntersitial14.25
TestisLeydigCell16.9
TestisSeminiferousTubule18.05
Thalamus16.75
Thymus28.9
Thyroid28.45
Tongue17.35
Tonsil16.55
Trachea12.25
TrigeminalGanglion18.05
Uterus14.65
UterusCorpus14.45
WholeBlood17.1
Wholebrain13.05
colon20.05
pineal_day67.3
pineal_night50.44
retina23.325
small_intestine17.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P37327
  • 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
Amygdala6.41 ± 0.38
Basal Forebrain6.65 ± 0.19
Basal Part of Pons6.64 ± 0.36
Cerebellar Cortex6.86 ± 0.31
Cerebellar Nuclei6.69 ± 0.32
Claustrum6.29 ± 0.41
Epithalamus6.85 ± 0.54
Frontal Lobe6.34 ± 0.53
Globus Pallidus6.94 ± 0.42
Hypothalamus6.4 ± 0.68
Insula6.4 ± 0.29
Limbic Lobe6.24 ± 0.53
Mesencephalon6.53 ± 0.52
Myelencephalon6.49 ± 0.55
Occipital Lobe6.81 ± 0.5
Parietal Lobe6.38 ± 0.42
Pontine Tegmentum6.45 ± 0.46
Striatum6.69 ± 0.52
Subthalamus6.57 ± 0.18
Temporal Lobe6.35 ± 0.4
Thalamus6.59 ± 0.44
White Matter7.56 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abcd4CBCerebellum15.99
17.56
Abcd4CTXCerebral cortex12.5
8.71
Abcd4HIPHippocampal region19.12
17.88
Abcd4HPFHippocampal formation23.06
19.75
Abcd4HYHypothalamus8.13
6.15
Abcd4LSXLateral septal complex4.7
3.46
Abcd4MBMidbrain8.99
7.92
Abcd4MYMedulla27.41
28.94
Abcd4OLFOlfactory bulb38.27
30.3
Abcd4PPons25.43
26.29
Abcd4PALPallidum13.29
12.1
Abcd4RHPRetrohippocampal region31.41
23.65
Abcd4sAMYStriatum-like amygdalar nuclei19.24
13.22
Abcd4STRStriatum10.92
7.61
Abcd4STRdStriatum dorsal region8.73
5.89
Abcd4STRvStriatum ventral region17.29
12.59
Abcd4THThalamus15.2
10.89
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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