AutismKB 2.0

Annotation Detail for CD2AP


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Basic Information Top
Gene Symbol:CD2AP ( CMS,DKFZp586H0519 )
Gene Full Name: CD2-associated protein
Band: 6p12.3
Quick LinksEntrez ID:23607; OMIM: 604241; Uniprot ID:CD2AP_HUMAN; ENSEMBL ID: ENSG00000198087; HGNC ID: 14258
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 body4 / 7076156
blastocyst3 / 6231948
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult69 / 193912135
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor4 / 26384515
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal98 / 336030729
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder5 / 29757168
blood2 / 12347816
bone1 / 7165513
bone marrow2 / 4880140
brain10 / 11009899
cervix2 / 4817141
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye9 / 21105442
heart1 / 8962611
intestine19 / 23447281
kidney13 / 21177761
larynx0 / 241450 
liver7 / 20774333
lung8 / 33697423
lymph0 / 442700 
lymph node7 / 9161076
mammary gland11 / 15327171
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary7 / 10205168
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate7 / 18934536
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach3 / 9661931
testis11 / 33044233
thymus4 / 8113149
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203593_at
Cell line Expression level Expression bar
721_B_lymphoblasts175.2
Adipocyte6.75
AdrenalCortex9
Adrenalgland6.45
Amygdala6.15
Appendix8.45
AtrioventricularNode6.45
BDCA4+_DentriticCells350.85
Bonemarrow7.75
BronchialEpithelialCells17.05
CD105+_Endothelial29.75
CD14+_Monocytes8.35
CD19+_BCells(neg._sel.)33.35
CD33+_Myeloid10.7
CD34+45.05
CD4+_Tcells18.9
CD56+_NKCells28.45
CD71+_EarlyErythroid28.65
CD8+_Tcells27.35
CardiacMyocytes11.7
Caudatenucleus6.35
Cerebellum5.6
CerebellumPeduncles8.65
CiliaryGanglion5.8
CingulateCortex7.25
Colorectaladenocarcinoma7.25
DorsalRootGanglion6.2
FetalThyroid10.2
Fetalbrain6.6
Fetalliver18.15
Fetallung10.3
GlobusPallidus5.7
Heart11
Hypothalamus7.25
Kidney6.4
Leukemia_chronicMyelogenousK-56233.4
Leukemia_promyelocytic-HL-608.5
Leukemialymphoblastic(MOLT-4)22.3
Liver10.75
Lung7.05
Lymphnode5.95
Lymphoma_burkitts(Daudi)37.6
Lymphoma_burkitts(Raji)14.2
MedullaOblongata5.5
OccipitalLobe6.05
OlfactoryBulb5.05
Ovary5.15
Pancreas42
PancreaticIslet26.2
ParietalLobe8.05
Pituitary9.75
Placenta6.95
Pons7.1
PrefrontalCortex8.2
Prostate8.95
Salivarygland6.65
SkeletalMuscle9.8
Skin7
SmoothMuscle20.25
Spinalcord7.45
SubthalamicNucleus6.9
SuperiorCervicalGanglion9.95
TemporalLobe6.75
Testis5.4
TestisGermCell6.7
TestisIntersitial6.55
TestisLeydigCell7.5
TestisSeminiferousTubule6.05
Thalamus7.5
Thymus5.25
Thyroid21.75
Tongue7.95
Tonsil7.35
Trachea19.65
TrigeminalGanglion8.7
Uterus11.1
UterusCorpus7.35
WholeBlood15.6
Wholebrain4.8
colon135.35
pineal_day14.6
pineal_night10.26
retina7.925
small_intestine66.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P329152
  • 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
Amygdala2.24 ± 0.95
Basal Forebrain1.63 ± 0.14
Basal Part of Pons1.55 ± 0.62
Cerebellar Cortex2.11 ± 0.58
Cerebellar Nuclei2.11 ± 0.68
Claustrum2.46 ± 0.76
Epithalamus1.9 ± 0.61
Frontal Lobe1.6 ± 0.68
Globus Pallidus2.19 ± 0.82
Hypothalamus1.79 ± 0.58
Insula1.46 ± 0.57
Limbic Lobe1.67 ± 0.68
Mesencephalon1.97 ± 0.77
Myelencephalon1.78 ± 0.62
Occipital Lobe2.13 ± 0.73
Parietal Lobe1.71 ± 0.74
Pontine Tegmentum1.93 ± 0.74
Striatum2.03 ± 0.7
Subthalamus1.96 ± 0.41
Temporal Lobe1.68 ± 0.67
Thalamus1.79 ± 0.62
White Matter1.84 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cd2apCBCerebellum13.94
15.35
Cd2apCTXCerebral cortex31.76
20.38
Cd2apHIPHippocampal region22.78
22.52
Cd2apHPFHippocampal formation20.27
17.67
Cd2apHYHypothalamus8.23
6.61
Cd2apLSXLateral septal complex8.76
5.61
Cd2apMBMidbrain9.98
8.24
Cd2apMYMedulla17.28
16.75
Cd2apOLFOlfactory bulb29.91
22.86
Cd2apPPons11.24
10
Cd2apPALPallidum11.06
8.83
Cd2apRHPRetrohippocampal region15.68
10.4
Cd2apsAMYStriatum-like amygdalar nuclei11.85
7.8
Cd2apSTRStriatum14.54
9.7
Cd2apSTRdStriatum dorsal region13.59
9.16
Cd2apSTRvStriatum ventral region23.81
15.1
Cd2apTHThalamus17.23
12.32
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CD2AP_HUMAN_580 8 580 587 KNSLDELR PRIDE
PAp00001812 20 538 557 DTCYSPKPSVYLSTPSSASK 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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