AutismKB 2.0

Annotation Detail for AP4E1


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Basic Information Top
Gene Symbol:AP4E1 ( DKFZp686L12167 )
Gene Full Name: adaptor-related protein complex 4, epsilon 1 subunit
Band: 15q21.2
Quick LinksEntrez ID:23431; OMIM: 607244; Uniprot ID:AP4E1_HUMAN; ENSEMBL ID: ENSG00000081014; HGNC ID: 573
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 
fetus9 / 56401215
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult26 / 193912113
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 tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal39 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
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 tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood3 / 12347824
bone1 / 7165513
bone marrow1 / 4880120
brain6 / 11009895
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx1 / 2414541
liver4 / 20774319
lung1 / 3369742
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220229_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.8
Adipocyte6.3
AdrenalCortex8.4
Adrenalgland5.9
Amygdala6.6
Appendix7.85
AtrioventricularNode8
BDCA4+_DentriticCells6.75
Bonemarrow7.15
BronchialEpithelialCells6.3
CD105+_Endothelial6.35
CD14+_Monocytes6.85
CD19+_BCells(neg._sel.)6.65
CD33+_Myeloid8.2
CD34+7.85
CD4+_Tcells6.85
CD56+_NKCells7
CD71+_EarlyErythroid6.2
CD8+_Tcells6.1
CardiacMyocytes13.4
Caudatenucleus5.85
Cerebellum5.35
CerebellumPeduncles7.9
CiliaryGanglion6.85
CingulateCortex7
Colorectaladenocarcinoma6.45
DorsalRootGanglion6.4
FetalThyroid6.6
Fetalbrain6.3
Fetalliver5.95
Fetallung4.95
GlobusPallidus5.2
Heart9.6
Hypothalamus6.95
Kidney6.2
Leukemia_chronicMyelogenousK-5626
Leukemia_promyelocytic-HL-605.8
Leukemialymphoblastic(MOLT-4)5.15
Liver9.65
Lung7
Lymphnode5.45
Lymphoma_burkitts(Daudi)8.65
Lymphoma_burkitts(Raji)9.75
MedullaOblongata5.85
OccipitalLobe5.85
OlfactoryBulb5.15
Ovary4.75
Pancreas5.5
PancreaticIslet6.85
ParietalLobe7.2
Pituitary7.7
Placenta6.6
Pons6.5
PrefrontalCortex7.85
Prostate7.4
Salivarygland5.65
SkeletalMuscle11.6
Skin5.85
SmoothMuscle7.3
Spinalcord7
SubthalamicNucleus6.05
SuperiorCervicalGanglion11.1
TemporalLobe6.25
Testis5.55
TestisGermCell5.3
TestisIntersitial5.55
TestisLeydigCell6.8
TestisSeminiferousTubule5.55
Thalamus6.75
Thymus5.05
Thyroid8
Tongue8.25
Tonsil6.4
Trachea5.4
TrigeminalGanglion8.7
Uterus5.25
UterusCorpus6.55
WholeBlood7.05
Wholebrain5.25
colon6.55
pineal_day7.82
pineal_night7.72
retina8
small_intestine6.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P929369
  • 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
Amygdala7.24 ± 0.37
Basal Forebrain7.5 ± 0.1
Basal Part of Pons7.51 ± 0.23
Cerebellar Cortex7.73 ± 0.12
Cerebellar Nuclei7.6 ± 0.15
Claustrum7.71 ± 0.46
Epithalamus7.32 ± 0.25
Frontal Lobe7.49 ± 0.23
Globus Pallidus7.52 ± 0.16
Hypothalamus7.53 ± 0.29
Insula7.4 ± 0.27
Limbic Lobe7.5 ± 0.26
Mesencephalon7.57 ± 0.3
Myelencephalon7.49 ± 0.27
Occipital Lobe7.78 ± 0.28
Parietal Lobe7.57 ± 0.22
Pontine Tegmentum7.48 ± 0.28
Striatum7.27 ± 0.25
Subthalamus7.61 ± 0.23
Temporal Lobe7.43 ± 0.25
Thalamus7.55 ± 0.21
White Matter8.24 ± 0.06
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ap4e1CBCerebellum0.42
0.43
Ap4e1CTXCerebral cortex0.61
0.69
Ap4e1HIPHippocampal region0.4
0.4
Ap4e1HPFHippocampal formation0.47
0.46
Ap4e1HYHypothalamus0.05
0.06
Ap4e1LSXLateral septal complex0
0
Ap4e1MBMidbrain0.08
0.15
Ap4e1MYMedulla0.25
0.36
Ap4e1OLFOlfactory bulb1.06
1.18
Ap4e1PPons0.11
0.14
Ap4e1PALPallidum0.04
0.04
Ap4e1RHPRetrohippocampal region0.63
0.59
Ap4e1sAMYStriatum-like amygdalar nuclei0.13
0.07
Ap4e1STRStriatum0.09
0.08
Ap4e1STRdStriatum dorsal region0.08
0.08
Ap4e1STRvStriatum ventral region0.12
0.09
Ap4e1THThalamus0.04
0.07
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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