AutismKB 2.0

Annotation Detail for ASAP2


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Basic Information Top
Gene Symbol:ASAP2 ( AMAP2,CENTB3,DDEF2,FLJ42910,KIAA0400,PAG3,PAP,Pap-alpha,SHAG1 )
Gene Full Name: ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
Band: 2p25.1
Quick LinksEntrez ID:8853; OMIM: 603817; Uniprot ID:ASAP2_HUMAN; ENSEMBL ID: ENSG00000151693; HGNC ID: 2721
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 body8 / 70761113
blastocyst1 / 6231916
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult100 / 193912151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor37 / 119369309
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor10 / 13630273
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor6 / 9635962
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal111 / 336030733
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain28 / 110098925
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus1 / 2020949
eye2 / 2110549
heart1 / 8962611
intestine13 / 23447255
kidney10 / 21177747
larynx2 / 2414582
liver9 / 20774343
lung5 / 33697414
lymph0 / 442700 
lymph node1 / 9161010
mammary gland10 / 15327165
mouth8 / 67052119
muscle2 / 10771518
nerve1 / 1576863
ovary2 / 10205119
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach41 / 96619424
testis24 / 33044272
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206414_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.35
Adipocyte17.3
AdrenalCortex15.3
Adrenalgland14.95
Amygdala47.05
Appendix33.15
AtrioventricularNode13.35
BDCA4+_DentriticCells21.5
Bonemarrow17.6
BronchialEpithelialCells146.55
CD105+_Endothelial15.8
CD14+_Monocytes12.95
CD19+_BCells(neg._sel.)15.15
CD33+_Myeloid15.15
CD34+24.25
CD4+_Tcells11.8
CD56+_NKCells9.5
CD71+_EarlyErythroid9.2
CD8+_Tcells10.75
CardiacMyocytes59.1
Caudatenucleus51.75
Cerebellum49.2
CerebellumPeduncles44.05
CiliaryGanglion13.3
CingulateCortex21.8
Colorectaladenocarcinoma122.7
DorsalRootGanglion14.65
FetalThyroid35.65
Fetalbrain46.5
Fetalliver15.5
Fetallung32.3
GlobusPallidus13.35
Heart23.55
Hypothalamus39.6
Kidney23.65
Leukemia_chronicMyelogenousK-56215.8
Leukemia_promyelocytic-HL-6015
Leukemialymphoblastic(MOLT-4)14.15
Liver23.8
Lung19
Lymphnode15.2
Lymphoma_burkitts(Daudi)19.1
Lymphoma_burkitts(Raji)25.25
MedullaOblongata44.95
OccipitalLobe33.6
OlfactoryBulb22.2
Ovary12.05
Pancreas23.6
PancreaticIslet15.8
ParietalLobe31.9
Pituitary115.45
Placenta35.5
Pons25
PrefrontalCortex139.15
Prostate22.15
Salivarygland14.5
SkeletalMuscle21.4
Skin14.55
SmoothMuscle68.25
Spinalcord21.05
SubthalamicNucleus17.25
SuperiorCervicalGanglion20.7
TemporalLobe16.2
Testis39.85
TestisGermCell159.65
TestisIntersitial116.8
TestisLeydigCell123.45
TestisSeminiferousTubule69.8
Thalamus18.35
Thymus13.25
Thyroid137.4
Tongue17.65
Tonsil16.7
Trachea24.15
TrigeminalGanglion17.35
Uterus50.3
UterusCorpus20.05
WholeBlood17.25
Wholebrain65.25
colon131.9
pineal_day224.28
pineal_night305.08
retina59.225
small_intestine63.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P40088
  • 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
Amygdala5.95 ± 0.51
Basal Forebrain6.38 ± 0.21
Basal Part of Pons6.29 ± 0.44
Cerebellar Cortex5.77 ± 0.37
Cerebellar Nuclei6.46 ± 0.42
Claustrum6.4 ± 0.6
Epithalamus5.64 ± 0.49
Frontal Lobe5.95 ± 0.58
Globus Pallidus5.73 ± 0.46
Hypothalamus6.11 ± 0.37
Insula5.62 ± 0.4
Limbic Lobe5.87 ± 0.79
Mesencephalon6.17 ± 0.54
Myelencephalon6.02 ± 0.57
Occipital Lobe6.58 ± 0.52
Parietal Lobe6.08 ± 0.52
Pontine Tegmentum6.04 ± 0.61
Striatum6.99 ± 0.5
Subthalamus6.67 ± 0.37
Temporal Lobe5.73 ± 0.57
Thalamus6.1 ± 0.39
White Matter5.21 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ddef2CBCerebellum24.71
28.31
Ddef2CTXCerebral cortex48.64
36.01
Ddef2HIPHippocampal region35.55
47.43
Ddef2HPFHippocampal formation35.42
38.24
Ddef2HYHypothalamus8.62
6.4
Ddef2LSXLateral septal complex7.71
5.17
Ddef2MBMidbrain15.16
13.22
Ddef2MYMedulla26.92
26.21
Ddef2OLFOlfactory bulb33.49
26.76
Ddef2PPons16.55
15.32
Ddef2PALPallidum11.72
9.69
Ddef2RHPRetrohippocampal region35.56
26.98
Ddef2sAMYStriatum-like amygdalar nuclei4.99
3.4
Ddef2STRStriatum16.14
11.8
Ddef2STRdStriatum dorsal region15.1
11.34
Ddef2STRvStriatum ventral region28.39
19.16
Ddef2THThalamus33.31
28.44
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ASAP2_HUMAN_419 11 419 429 LTKEIISEVQR PRIDE
PAp00041520 17 664 680 LKHEHCEELLTQALSGR 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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