AutismKB 2.0

Annotation Detail for APPL1


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Basic Information Top
Gene Symbol:APPL1 ( APPL,DIP13alpha )
Gene Full Name: adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
Band: 3p14.3
Quick LinksEntrez ID:26060; OMIM: 604299; Uniprot ID:DP13A_HUMAN; ENSEMBL ID: ENSG00000157500; HGNC ID: 24035
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 body5 / 7076170
blastocyst1 / 6231916
fetus26 / 56401246
neonate1 / 3109732
infant0 / 236200 
juvenile4 / 5555671
adult86 / 193912144
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 tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor14 / 26384553
glioma9 / 10688384
head and neck tumor6 / 13630244
kidney tumor2 / 6895929
leukemia7 / 9584273
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal159 / 336030747
ovarian tumor5 / 7668265
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer7 / 10268068
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood9 / 12347872
bone6 / 7165583
bone marrow2 / 4880140
brain47 / 110098942
cervix2 / 4817141
connective tissue9 / 14925560
ear4 / 16212246
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye7 / 21105433
heart8 / 8962689
intestine8 / 23447234
kidney8 / 21177737
larynx0 / 241450 
liver4 / 20774319
lung13 / 33697438
lymph0 / 442700 
lymph node13 / 91610141
mammary gland7 / 15327145
mouth3 / 6705244
muscle6 / 10771555
nerve0 / 157680 
ovary4 / 10205139
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta12 / 28082542
prostate12 / 18934563
salivary gland1 / 2015549
skin11 / 21057452
spleen1 / 5395218
stomach1 / 9661910
testis24 / 33044272
thymus3 / 8113136
thyroid3 / 4747363
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord1 / 1368073
uterus14 / 23287860
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218158_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts15.7
Adipocyte7.3
AdrenalCortex8.3
Adrenalgland6.25
Amygdala36.3
Appendix8.4
AtrioventricularNode8.65
BDCA4+_DentriticCells28.95
Bonemarrow7.5
BronchialEpithelialCells7.05
CD105+_Endothelial6.95
CD14+_Monocytes8.8
CD19+_BCells(neg._sel.)17.9
CD33+_Myeloid16.6
CD34+19.55
CD4+_Tcells7.8
CD56+_NKCells13.3
CD71+_EarlyErythroid6.5
CD8+_Tcells11.2
CardiacMyocytes9.85
Caudatenucleus6.4
Cerebellum6.35
CerebellumPeduncles8.7
CiliaryGanglion5.85
CingulateCortex7.9
Colorectaladenocarcinoma15.4
DorsalRootGanglion6.75
FetalThyroid7.25
Fetalbrain14.4
Fetalliver6.45
Fetallung6.8
GlobusPallidus5.8
Heart9.8
Hypothalamus9.8
Kidney6.35
Leukemia_chronicMyelogenousK-5626.3
Leukemia_promyelocytic-HL-6011.65
Leukemialymphoblastic(MOLT-4)6.5
Liver10.3
Lung7.75
Lymphnode11
Lymphoma_burkitts(Daudi)21.65
Lymphoma_burkitts(Raji)24.6
MedullaOblongata6.45
OccipitalLobe8.95
OlfactoryBulb5.4
Ovary6.7
Pancreas6.25
PancreaticIslet13.05
ParietalLobe8.1
Pituitary9
Placenta6.85
Pons6.95
PrefrontalCortex15.2
Prostate12.65
Salivarygland6.2
SkeletalMuscle9
Skin7.75
SmoothMuscle8.3
Spinalcord8.65
SubthalamicNucleus7.2
SuperiorCervicalGanglion8.75
TemporalLobe6.85
Testis5.95
TestisGermCell7.55
TestisIntersitial6.1
TestisLeydigCell7.3
TestisSeminiferousTubule5.95
Thalamus7.95
Thymus5.7
Thyroid48
Tongue8.1
Tonsil10.45
Trachea6.5
TrigeminalGanglion15.05
Uterus26.35
UterusCorpus6.75
WholeBlood8.4
Wholebrain16.2
colon21.35
pineal_day8.62
pineal_night8.2
retina11.2
small_intestine9.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P302833
  • 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
Amygdala6.44 ± 0.38
Basal Forebrain6.89 ± 0.16
Basal Part of Pons6.83 ± 0.36
Cerebellar Cortex7.09 ± 0.21
Cerebellar Nuclei6.82 ± 0.31
Claustrum6.3 ± 0.57
Epithalamus6.82 ± 0.4
Frontal Lobe6.81 ± 0.29
Globus Pallidus7 ± 0.28
Hypothalamus6.83 ± 0.19
Insula6.79 ± 0.24
Limbic Lobe6.6 ± 0.4
Mesencephalon6.66 ± 0.4
Myelencephalon6.67 ± 0.42
Occipital Lobe6.48 ± 0.52
Parietal Lobe6.83 ± 0.29
Pontine Tegmentum6.78 ± 0.29
Striatum6.23 ± 0.3
Subthalamus6.98 ± 0.77
Temporal Lobe6.74 ± 0.29
Thalamus6.77 ± 0.36
White Matter7.12 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2900057D21RikCBCerebellum10.97
10.61
2900057D21RikCTXCerebral cortex28.69
19.03
2900057D21RikHIPHippocampal region22.25
22.8
2900057D21RikHPFHippocampal formation19.47
17.87
2900057D21RikHYHypothalamus1.64
1.12
2900057D21RikLSXLateral septal complex5.68
3.61
2900057D21RikMBMidbrain5.23
4.09
2900057D21RikMYMedulla4.35
4.05
2900057D21RikOLFOlfactory bulb22.93
16.64
2900057D21RikPPons5.48
5.57
2900057D21RikPALPallidum1.71
1.33
2900057D21RikRHPRetrohippocampal region15.83
12.19
2900057D21RiksAMYStriatum-like amygdalar nuclei4.64
3.1
2900057D21RikSTRStriatum3.87
2.68
2900057D21RikSTRdStriatum dorsal region3.75
2.68
2900057D21RikSTRvStriatum ventral region3.47
2.16
2900057D21RikTHThalamus5.68
4.93
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DP13A_HUMAN_2 19 2 20 PGIDKLPIEETLEDSPQTR PRIDE
DP13A_HUMAN_71 21 71 91 QRFPLGGDDEVMSSTLQQFSK PRIDE
PAp00096249 15 361 375 KDHEEWICTINNISK 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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