AutismKB 2.0

Annotation Detail for AAGAB


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Basic Information Top
Gene Symbol:AAGAB ( DKFZp667D2317,DKFZp686G08119,FLJ11506,p34 )
Gene Full Name: alpha- and gamma-adaptin binding protein
Band: 15q23
Quick LinksEntrez ID:79719; OMIM: NA; Uniprot ID:AAGAB_HUMAN; ENSEMBL ID: ENSG00000103591; HGNC ID: 25662
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 body2 / 7076128
blastocyst4 / 6231964
fetus27 / 56401247
neonate3 / 3109796
infant3 / 23620127
juvenile4 / 5555671
adult113 / 193912158
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) tumor11 / 94178116
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor11 / 11424696
esophageal tumor5 / 17290289
gastrointestinal tumor5 / 11936941
germ cell tumor26 / 26384598
glioma7 / 10688365
head and neck tumor6 / 13630244
kidney tumor4 / 6895958
leukemia11 / 95842114
liver tumor13 / 96359134
lung tumor4 / 10312738
lymphoma4 / 7175555
non-neoplasia8 / 9725082
normal199 / 336030759
ovarian tumor1 / 7668213
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer9 / 10268087
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood10 / 12347880
bone5 / 7165569
bone marrow4 / 4880181
brain74 / 110098967
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus5 / 20209247
eye15 / 21105471
heart5 / 8962655
intestine30 / 234472127
kidney13 / 21177761
larynx0 / 241450 
liver13 / 20774362
lung21 / 33697462
lymph0 / 442700 
lymph node1 / 9161010
mammary gland14 / 15327191
mouth4 / 6705259
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas9 / 21481241
parathyroid3 / 20539146
pharynx4 / 4132896
pituitary gland2 / 16585120
placenta11 / 28082539
prostate11 / 18934558
salivary gland0 / 201550 
skin12 / 21057456
spleen1 / 5395218
stomach6 / 9661962
testis21 / 33044263
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord2 / 13680146
uterus13 / 23287855
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202852_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts43.95
Adipocyte9.05
AdrenalCortex8.8
Adrenalgland6.5
Amygdala8.4
Appendix7.65
AtrioventricularNode5.85
BDCA4+_DentriticCells25.2
Bonemarrow8.6
BronchialEpithelialCells34.3
CD105+_Endothelial15.15
CD14+_Monocytes17.8
CD19+_BCells(neg._sel.)11.05
CD33+_Myeloid17.6
CD34+13
CD4+_Tcells16.55
CD56+_NKCells45.4
CD71+_EarlyErythroid25.25
CD8+_Tcells14.35
CardiacMyocytes9.45
Caudatenucleus6.95
Cerebellum6.1
CerebellumPeduncles8.55
CiliaryGanglion5.4
CingulateCortex8.45
Colorectaladenocarcinoma7.55
DorsalRootGanglion5.8
FetalThyroid9.4
Fetalbrain7.35
Fetalliver6.55
Fetallung6.95
GlobusPallidus7.85
Heart9.8
Hypothalamus8.3
Kidney6.8
Leukemia_chronicMyelogenousK-5629.8
Leukemia_promyelocytic-HL-6011.75
Leukemialymphoblastic(MOLT-4)9.3
Liver10.85
Lung8.1
Lymphnode6.5
Lymphoma_burkitts(Daudi)18.45
Lymphoma_burkitts(Raji)10.8
MedullaOblongata7.65
OccipitalLobe7.25
OlfactoryBulb5.9
Ovary4.95
Pancreas8.3
PancreaticIslet11.1
ParietalLobe8.5
Pituitary11.65
Placenta7.5
Pons7.1
PrefrontalCortex9.65
Prostate9.2
Salivarygland6.05
SkeletalMuscle8.8
Skin6.55
SmoothMuscle9.5
Spinalcord9.7
SubthalamicNucleus7.3
SuperiorCervicalGanglion8.5
TemporalLobe7.2
Testis6.65
TestisGermCell6.65
TestisIntersitial6.2
TestisLeydigCell7.45
TestisSeminiferousTubule7.3
Thalamus7.75
Thymus7.4
Thyroid13.55
Tongue8.1
Tonsil7.4
Trachea6.35
TrigeminalGanglion8.25
Uterus6.9
UterusCorpus6.45
WholeBlood19.8
Wholebrain7.85
colon15.05
pineal_day22.24
pineal_night16.16
retina9.3
small_intestine10
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7640_PI416261804
  • 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
Amygdala7.49 ± 0.33
Basal Forebrain7.44 ± 0.23
Basal Part of Pons7.9 ± 0.31
Cerebellar Cortex7.25 ± 0.28
Cerebellar Nuclei7.69 ± 0.36
Claustrum7.98 ± 0.43
Epithalamus7.34 ± 0.42
Frontal Lobe7.6 ± 0.41
Globus Pallidus7.37 ± 0.36
Hypothalamus7.7 ± 0.28
Insula7.55 ± 0.21
Limbic Lobe7.65 ± 0.45
Mesencephalon7.64 ± 0.47
Myelencephalon7.55 ± 0.39
Occipital Lobe7.7 ± 0.33
Parietal Lobe7.72 ± 0.38
Pontine Tegmentum7.59 ± 0.29
Striatum7.43 ± 0.4
Subthalamus7.82 ± 0.23
Temporal Lobe7.54 ± 0.28
Thalamus7.76 ± 0.28
White Matter6.72 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2310007F21RikCBCerebellum56.04
80.17
2310007F21RikCTXCerebral cortex76.11
57.1
2310007F21RikHIPHippocampal region63.9
87.33
2310007F21RikHPFHippocampal formation58.96
65.65
2310007F21RikHYHypothalamus30.08
22.27
2310007F21RikLSXLateral septal complex66.73
49.43
2310007F21RikMBMidbrain49.09
41.33
2310007F21RikMYMedulla40.24
40.39
2310007F21RikOLFOlfactory bulb52.11
42.47
2310007F21RikPPons37.13
34.86
2310007F21RikPALPallidum33.73
27.12
2310007F21RikRHPRetrohippocampal region53.36
42.09
2310007F21RiksAMYStriatum-like amygdalar nuclei28.45
18.85
2310007F21RikSTRStriatum48.37
33.23
2310007F21RikSTRdStriatum dorsal region48.84
33.79
2310007F21RikSTRvStriatum ventral region54.13
35.6
2310007F21RikTHThalamus63.54
51.83
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00069369 27 134 160 HGFELVELSPEELPEEDDDFPESTGVK 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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