AutismKB 2.0

Annotation Detail for DSCAM


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Basic Information Top
Gene Symbol:DSCAM ( CHD2-42,CHD2-52 )
Gene Full Name: Down syndrome cell adhesion molecule
Band: 21q22.2
Quick LinksEntrez ID:1826; OMIM: 602523; Uniprot ID:DSCAM_HUMAN; ENSEMBL ID: ENSG00000171587; HGNC ID: 3039
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 body0 / 707610 
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult21 / 193912110
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma8 / 10688374
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal20 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
brain24 / 110098921
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
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: 211484_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.4
Adipocyte7.2
AdrenalCortex9.45
Adrenalgland5.95
Amygdala12.15
Appendix7.2
AtrioventricularNode6.1
BDCA4+_DentriticCells6.6
Bonemarrow7.05
BronchialEpithelialCells6.65
CD105+_Endothelial6.4
CD14+_Monocytes7.05
CD19+_BCells(neg._sel.)6.75
CD33+_Myeloid7.75
CD34+8
CD4+_Tcells6.6
CD56+_NKCells7.2
CD71+_EarlyErythroid6.4
CD8+_Tcells5.8
CardiacMyocytes9.3
Caudatenucleus6.25
Cerebellum8
CerebellumPeduncles9.75
CiliaryGanglion5.05
CingulateCortex15.5
Colorectaladenocarcinoma6.9
DorsalRootGanglion5.5
FetalThyroid6.75
Fetalbrain7.8
Fetalliver7.2
Fetallung5.85
GlobusPallidus6.05
Heart10.6
Hypothalamus11.6
Kidney5.85
Leukemia_chronicMyelogenousK-5626.35
Leukemia_promyelocytic-HL-606.15
Leukemialymphoblastic(MOLT-4)5.6
Liver11.3
Lung7.45
Lymphnode5.9
Lymphoma_burkitts(Daudi)8.85
Lymphoma_burkitts(Raji)10.15
MedullaOblongata6.75
OccipitalLobe7
OlfactoryBulb5.35
Ovary5
Pancreas5.7
PancreaticIslet7.35
ParietalLobe9.3
Pituitary9.15
Placenta6.65
Pons7.2
PrefrontalCortex9.2
Prostate8.05
Salivarygland5.8
SkeletalMuscle12.8
Skin6.2
SmoothMuscle7.7
Spinalcord11.05
SubthalamicNucleus7.8
SuperiorCervicalGanglion13.4
TemporalLobe6.65
Testis6.05
TestisGermCell5.5
TestisIntersitial6.1
TestisLeydigCell6.9
TestisSeminiferousTubule6
Thalamus9.8
Thymus5.25
Thyroid8.15
Tongue8.65
Tonsil6.75
Trachea5.9
TrigeminalGanglion8.5
Uterus5.35
UterusCorpus8.7
WholeBlood7.6
Wholebrain7
colon6.95
pineal_day8.34
pineal_night7.86
retina9.125
small_intestine6.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14293_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
Amygdala4.38 ± 0.88
Basal Forebrain4.22 ± 0.54
Basal Part of Pons3.79 ± 1.15
Cerebellar Cortex3.14 ± 0.6
Cerebellar Nuclei3.61 ± 0.86
Claustrum4.93 ± 0.75
Epithalamus3.44 ± 1.11
Frontal Lobe3.67 ± 0.79
Globus Pallidus4.84 ± 0.87
Hypothalamus3.43 ± 0.85
Insula3.62 ± 0.69
Limbic Lobe4.26 ± 0.99
Mesencephalon4.11 ± 0.79
Myelencephalon3.99 ± 0.92
Occipital Lobe4.44 ± 0.66
Parietal Lobe4.11 ± 0.82
Pontine Tegmentum3.84 ± 0.99
Striatum4.06 ± 1.06
Subthalamus3.61 ± 1.51
Temporal Lobe4 ± 0.88
Thalamus3.85 ± 0.71
White Matter4.02 ± 0.26
Mouse Brain ISH
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