AutismKB 2.0

Annotation Detail for CNTNAP2


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Basic Information Top
Gene Symbol:CNTNAP2 ( AUTS15,CASPR2,CDFE,DKFZp781D1846,NRXN4,PTHSL1 )
Gene Full Name: contactin associated protein-like 2
Band: 7q35-q36.1
Quick LinksEntrez ID:26047; OMIM: 604569; Uniprot ID:CNTP2_HUMAN; ENSEMBL ID: ENSG00000174469; HGNC ID: 13830
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 body9 / 70761127
blastocyst9 / 62319144
fetus21 / 56401237
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult50 / 193912125
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor16 / 26384560
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal137 / 336030740
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain58 / 110098952
cervix0 / 481710 
connective tissue1 / 1492556
ear2 / 16212123
embryonic tissue32 / 215722148
esophagus0 / 202090 
eye10 / 21105447
heart1 / 8962611
intestine4 / 23447217
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle2 / 10771518
nerve2 / 15768126
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta3 / 28082510
prostate6 / 18934531
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis8 / 33044224
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215145_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.2
Adipocyte4.35
AdrenalCortex4.85
Adrenalgland3.8
Amygdala12.25
Appendix4.6
AtrioventricularNode3.35
BDCA4+_DentriticCells4.6
Bonemarrow4.6
BronchialEpithelialCells4.35
CD105+_Endothelial4.4
CD14+_Monocytes4.55
CD19+_BCells(neg._sel.)20.8
CD33+_Myeloid5.5
CD34+5.4
CD4+_Tcells4.7
CD56+_NKCells5.55
CD71+_EarlyErythroid4.3
CD8+_Tcells4.1
CardiacMyocytes6.05
Caudatenucleus3.95
Cerebellum4.2
CerebellumPeduncles5.15
CiliaryGanglion3.35
CingulateCortex5.3
Colorectaladenocarcinoma4.45
DorsalRootGanglion3.45
FetalThyroid4.3
Fetalbrain4.5
Fetalliver3.85
Fetallung3.55
GlobusPallidus6.35
Heart7.7
Hypothalamus5
Kidney3.7
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-603.85
Leukemialymphoblastic(MOLT-4)3.45
Liver6.05
Lung4.75
Lymphnode3.65
Lymphoma_burkitts(Daudi)5.7
Lymphoma_burkitts(Raji)6.75
MedullaOblongata4.75
OccipitalLobe19.4
OlfactoryBulb3.5
Ovary2.95
Pancreas3.5
PancreaticIslet4.75
ParietalLobe16.95
Pituitary5.2
Placenta4.55
Pons6.05
PrefrontalCortex27.3
Prostate8.3
Salivarygland3.75
SkeletalMuscle5.5
Skin3.4
SmoothMuscle4.9
Spinalcord4.75
SubthalamicNucleus5.6
SuperiorCervicalGanglion5.3
TemporalLobe6.75
Testis3.7
TestisGermCell3.7
TestisIntersitial3.65
TestisLeydigCell4.4
TestisSeminiferousTubule3.8
Thalamus4.85
Thymus5.25
Thyroid5.35
Tongue4.65
Tonsil4.3
Trachea3.65
TrigeminalGanglion6.35
Uterus3.55
UterusCorpus4.2
WholeBlood4.9
Wholebrain38.7
colon4.4
pineal_day14.64
pineal_night31.04
retina5.5
small_intestine4.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P84399
  • 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
Amygdala11.55 ± 0.43
Basal Forebrain10.82 ± 0.56
Basal Part of Pons11.88 ± 0.17
Cerebellar Cortex10.61 ± 0.25
Cerebellar Nuclei11.19 ± 0.4
Claustrum10.97 ± 0.43
Epithalamus10.46 ± 1.08
Frontal Lobe11.51 ± 0.46
Globus Pallidus10.63 ± 0.84
Hypothalamus11.59 ± 0.46
Insula11.7 ± 0.23
Limbic Lobe11.12 ± 0.59
Mesencephalon10.99 ± 0.44
Myelencephalon11.16 ± 0.69
Occipital Lobe10.69 ± 0.68
Parietal Lobe11.43 ± 0.41
Pontine Tegmentum11.18 ± 0.57
Striatum10.78 ± 0.91
Subthalamus11.97 ± 0.25
Temporal Lobe11.45 ± 0.3
Thalamus11.33 ± 0.44
White Matter9.68 ± 0.96
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cntnap2CBCerebellum69.98
100
Cntnap2CTXCerebral cortex100
100
Cntnap2HIPHippocampal region100
100
Cntnap2HPFHippocampal formation100
100
Cntnap2HYHypothalamus100
100
Cntnap2LSXLateral septal complex100
100
Cntnap2MBMidbrain100
100
Cntnap2MYMedulla100
100
Cntnap2OLFOlfactory bulb100
100
Cntnap2PPons100
100
Cntnap2PALPallidum100
100
Cntnap2RHPRetrohippocampal region100
100
Cntnap2sAMYStriatum-like amygdalar nuclei100
100
Cntnap2STRStriatum100
100
Cntnap2STRdStriatum dorsal region100
100
Cntnap2STRvStriatum ventral region100
100
Cntnap2THThalamus100
100
Peptide Top

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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