AutismKB 2.0

Annotation Detail for ASAP1


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Basic Information Top
Gene Symbol:ASAP1 ( AMAP1,CENTB4,DDEF1,KIAA1249,PAG2,PAP,ZG14P )
Gene Full Name: ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
Band: 8q24.21-q24.22
Quick LinksEntrez ID:50807; OMIM: 605953; Uniprot ID:ASAP1_HUMAN; ENSEMBL ID: ENSG00000153317; HGNC ID: 2720
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 body6 / 7076184
blastocyst4 / 6231964
fetus67 / 564012118
neonate0 / 310970 
infant1 / 2362042
juvenile3 / 5555653
adult112 / 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) tumor10 / 94178106
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor17 / 26384564
glioma3 / 10688328
head and neck tumor5 / 13630236
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor8 / 9635983
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal221 / 336030765
ovarian tumor2 / 7668226
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood8 / 12347864
bone2 / 7165527
bone marrow1 / 4880120
brain44 / 110098939
cervix2 / 4817141
connective tissue7 / 14925546
ear4 / 16212246
embryonic tissue17 / 21572278
esophagus1 / 2020949
eye11 / 21105452
heart2 / 8962622
intestine3 / 23447212
kidney14 / 21177766
larynx3 / 24145124
liver12 / 20774357
lung15 / 33697444
lymph1 / 4427022
lymph node8 / 9161087
mammary gland13 / 15327184
mouth1 / 6705214
muscle7 / 10771564
nerve1 / 1576863
ovary4 / 10205139
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta24 / 28082585
prostate4 / 18934521
salivary gland0 / 201550 
skin17 / 21057480
spleen1 / 5395218
stomach5 / 9661951
testis18 / 33044254
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus13 / 23287855
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221039_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.6
Adipocyte8.3
AdrenalCortex7.75
Adrenalgland6.5
Amygdala7.8
Appendix7.65
AtrioventricularNode5.9
BDCA4+_DentriticCells8.65
Bonemarrow10.6
BronchialEpithelialCells7.2
CD105+_Endothelial39.6
CD14+_Monocytes15.05
CD19+_BCells(neg._sel.)13.6
CD33+_Myeloid198.75
CD34+11.65
CD4+_Tcells8.4
CD56+_NKCells13.8
CD71+_EarlyErythroid103.75
CD8+_Tcells9
CardiacMyocytes13.25
Caudatenucleus6.75
Cerebellum5.85
CerebellumPeduncles8.15
CiliaryGanglion5.3
CingulateCortex8.95
Colorectaladenocarcinoma14.35
DorsalRootGanglion6.9
FetalThyroid7.3
Fetalbrain7.2
Fetalliver7.05
Fetallung6.4
GlobusPallidus5.5
Heart9.5
Hypothalamus7.9
Kidney5.85
Leukemia_chronicMyelogenousK-56211.95
Leukemia_promyelocytic-HL-606.55
Leukemialymphoblastic(MOLT-4)5.8
Liver9.55
Lung7.7
Lymphnode15.65
Lymphoma_burkitts(Daudi)11.55
Lymphoma_burkitts(Raji)10.25
MedullaOblongata6.6
OccipitalLobe13.55
OlfactoryBulb5.75
Ovary4.9
Pancreas5.8
PancreaticIslet14.25
ParietalLobe8.1
Pituitary8.7
Placenta16.45
Pons7.25
PrefrontalCortex20.95
Prostate8.3
Salivarygland5.85
SkeletalMuscle8.45
Skin5.75
SmoothMuscle18.85
Spinalcord7.7
SubthalamicNucleus7.1
SuperiorCervicalGanglion9.4
TemporalLobe6.7
Testis6.35
TestisGermCell6.05
TestisIntersitial7.75
TestisLeydigCell7.15
TestisSeminiferousTubule6.6
Thalamus8.85
Thymus5.7
Thyroid8.65
Tongue7.05
Tonsil7.5
Trachea6.05
TrigeminalGanglion7.7
Uterus6.15
UterusCorpus6.5
WholeBlood81.4
Wholebrain8.35
colon7
pineal_day9.36
pineal_night9.16
retina12.7
small_intestine6.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P44831
  • 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
Amygdala7.2 ± 0.47
Basal Forebrain7.48 ± 0.31
Basal Part of Pons7.42 ± 0.37
Cerebellar Cortex7.1 ± 0.28
Cerebellar Nuclei7.63 ± 0.13
Claustrum8 ± 0.38
Epithalamus7.26 ± 0.54
Frontal Lobe7.62 ± 0.39
Globus Pallidus7.49 ± 0.56
Hypothalamus7.34 ± 0.52
Insula7.58 ± 0.33
Limbic Lobe7.67 ± 0.48
Mesencephalon7.6 ± 0.31
Myelencephalon7.65 ± 0.36
Occipital Lobe8.11 ± 0.35
Parietal Lobe7.68 ± 0.44
Pontine Tegmentum7.69 ± 0.48
Striatum7.19 ± 0.74
Subthalamus7.8 ± 0.29
Temporal Lobe7.69 ± 0.34
Thalamus8.11 ± 0.39
White Matter6.93 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ddef1CBCerebellum15.76
19.46
Ddef1CTXCerebral cortex42.2
37.72
Ddef1HIPHippocampal region6.63
8.19
Ddef1HPFHippocampal formation12.5
13.97
Ddef1HYHypothalamus0.66
0.64
Ddef1LSXLateral septal complex0.39
0.29
Ddef1MBMidbrain2.61
3.38
Ddef1MYMedulla5.5
8.41
Ddef1OLFOlfactory bulb17.58
20.43
Ddef1PPons4.38
6.14
Ddef1PALPallidum1.69
2
Ddef1RHPRetrohippocampal region20.89
20.64
Ddef1sAMYStriatum-like amygdalar nuclei0.73
0.91
Ddef1STRStriatum1.72
1.72
Ddef1STRdStriatum dorsal region2.34
2.38
Ddef1STRvStriatum ventral region0.74
0.61
Ddef1THThalamus1.78
1.57
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00068727 24 801 824 GPTGPPSTLPLSTQTSSGSSTLSK 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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