AutismKB 2.0

Annotation Detail for AP3D1


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Basic Information Top
Gene Symbol:AP3D1 ( ADTD,hBLVR )
Gene Full Name: adaptor-related protein complex 3, delta 1 subunit
Band: 19p13.3
Quick LinksEntrez ID:8943; OMIM: 607246; Uniprot ID:AP3D1_HUMAN; ENSEMBL ID: ENSG00000065000; HGNC ID: 568
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 body11 / 70761155
blastocyst8 / 62319128
fetus33 / 56401258
neonate2 / 3109764
infant3 / 23620127
juvenile3 / 5555653
adult208 / 1939121107
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor6 / 9417863
cervical tumor4 / 34366116
chondrosarcoma14 / 82823169
colorectal tumor16 / 114246140
esophageal tumor1 / 1729057
gastrointestinal tumor19 / 119369159
germ cell tumor36 / 263845136
glioma11 / 106883102
head and neck tumor10 / 13630273
kidney tumor12 / 68959174
leukemia3 / 9584231
liver tumor8 / 9635983
lung tumor35 / 103127339
lymphoma14 / 71755195
non-neoplasia5 / 9725051
normal288 / 336030785
ovarian tumor10 / 76682130
pancreatic tumor19 / 104616181
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer26 / 102680253
retinoblastoma15 / 46356323
skin tumor50 / 124949400
soft tissue/muscle tissue tumor30 / 125191239
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland1 / 3319730
ascites7 / 40015174
bladder3 / 29757100
blood2 / 12347816
bone13 / 71655181
bone marrow2 / 4880140
brain63 / 110098957
cervix5 / 48171103
connective tissue7 / 14925546
ear1 / 1621261
embryonic tissue32 / 215722148
esophagus1 / 2020949
eye40 / 211054189
heart6 / 8962666
intestine40 / 234472170
kidney22 / 211777103
larynx1 / 2414541
liver13 / 20774362
lung56 / 336974166
lymph8 / 44270180
lymph node5 / 9161054
mammary gland12 / 15327178
mouth3 / 6705244
muscle21 / 107715194
nerve3 / 15768190
ovary23 / 102051225
pancreas28 / 214812130
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta13 / 28082546
prostate32 / 189345169
salivary gland3 / 20155148
skin58 / 210574275
spleen4 / 5395274
stomach9 / 9661993
testis28 / 33044284
thymus3 / 8113136
thyroid4 / 4747384
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus33 / 232878141
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210974_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.15
Adipocyte4.55
AdrenalCortex4.8
Adrenalgland3.8
Amygdala4.85
Appendix4.55
AtrioventricularNode3.5
BDCA4+_DentriticCells32.7
Bonemarrow4.5
BronchialEpithelialCells4.5
CD105+_Endothelial4.7
CD14+_Monocytes5.35
CD19+_BCells(neg._sel.)5.65
CD33+_Myeloid9.1
CD34+9
CD4+_Tcells8.2
CD56+_NKCells26.3
CD71+_EarlyErythroid4.3
CD8+_Tcells5.4
CardiacMyocytes5.9
Caudatenucleus4.1
Cerebellum3.7
CerebellumPeduncles5.15
CiliaryGanglion3.2
CingulateCortex4.65
Colorectaladenocarcinoma4.6
DorsalRootGanglion3.5
FetalThyroid4.4
Fetalbrain4.5
Fetalliver4
Fetallung3.8
GlobusPallidus3.35
Heart5.95
Hypothalamus5
Kidney3.7
Leukemia_chronicMyelogenousK-5624.15
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)3.7
Liver6.1
Lung5.1
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.8
Lymphoma_burkitts(Raji)6.6
MedullaOblongata4.15
OccipitalLobe4.1
OlfactoryBulb3.6
Ovary3.05
Pancreas3.7
PancreaticIslet4.9
ParietalLobe4.8
Pituitary5.3
Placenta4.75
Pons4.3
PrefrontalCortex5.65
Prostate6.7
Salivarygland3.6
SkeletalMuscle5.3
Skin3.5
SmoothMuscle5.2
Spinalcord4.9
SubthalamicNucleus4.15
SuperiorCervicalGanglion5.15
TemporalLobe4.15
Testis3.9
TestisGermCell3.75
TestisIntersitial3.85
TestisLeydigCell4.5
TestisSeminiferousTubule3.9
Thalamus4.65
Thymus3.55
Thyroid5.8
Tongue4.4
Tonsil4.45
Trachea3.85
TrigeminalGanglion4.55
Uterus3.7
UterusCorpus4.05
WholeBlood4.95
Wholebrain3.95
colon4.65
pineal_day5.78
pineal_night5.66
retina5.475
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P108135
  • 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
Amygdala12.91 ± 0.26
Basal Forebrain12.8 ± 0.21
Basal Part of Pons12.93 ± 0.2
Cerebellar Cortex12.75 ± 0.18
Cerebellar Nuclei12.53 ± 0.37
Claustrum13.06 ± 0.31
Epithalamus12.56 ± 0.21
Frontal Lobe12.84 ± 0.26
Globus Pallidus12.61 ± 0.3
Hypothalamus12.72 ± 0.18
Insula12.92 ± 0.14
Limbic Lobe13.11 ± 0.22
Mesencephalon12.86 ± 0.27
Myelencephalon12.89 ± 0.26
Occipital Lobe13.05 ± 0.23
Parietal Lobe12.9 ± 0.24
Pontine Tegmentum12.8 ± 0.27
Striatum13.19 ± 0.24
Subthalamus12.61 ± 0.12
Temporal Lobe12.94 ± 0.2
Thalamus12.91 ± 0.23
White Matter12.57 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ap3d1CBCerebellum48.66
61.46
Ap3d1CTXCerebral cortex100
94.62
Ap3d1HIPHippocampal region75.89
100
Ap3d1HPFHippocampal formation86.55
100
Ap3d1HYHypothalamus62.77
52.1
Ap3d1LSXLateral septal complex77.46
59.29
Ap3d1MBMidbrain55.94
50.23
Ap3d1MYMedulla44.99
47.28
Ap3d1OLFOlfactory bulb100
100
Ap3d1PPons47.44
45.64
Ap3d1PALPallidum68.06
62.34
Ap3d1RHPRetrohippocampal region100
96.99
Ap3d1sAMYStriatum-like amygdalar nuclei100
89.79
Ap3d1STRStriatum74.64
57.34
Ap3d1STRdStriatum dorsal region69.44
53
Ap3d1STRvStriatum ventral region79.62
57
Ap3d1THThalamus81.79
70.3
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AP3D1_HUMAN_2 11 2 12 ALKMVKGSIDR PRIDE
AP3D1_HUMAN_588 22 588 609 DVPVAEEVSALFAGELNPVAPK PRIDE
PAp00001347 15 1133 1147 CSDSTLLSNLLEEMK 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