AutismKB 2.0

Annotation Detail for DISC1


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Basic Information Top
Gene Symbol:DISC1 ( C1orf136,FLJ13381,FLJ21640,FLJ25311,FLJ41105,KIAA0457,SCZD9 )
Gene Full Name: disrupted in schizophrenia 1
Band: 1q42.2
Quick LinksEntrez ID:27185; OMIM: 605210; Uniprot ID:DISC1_HUMAN; ENSEMBL ID: ENSG00000162946; HGNC ID: 2888
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 body2 / 7076128
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult16 / 19391218
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal42 / 336030712
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
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 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain10 / 11009899
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine2 / 2344728
kidney0 / 2117770 
larynx0 / 241450 
liver5 / 20774324
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth2 / 6705229
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206090_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.25
Adipocyte4.4
AdrenalCortex4.45
Adrenalgland3.9
Amygdala4.8
Appendix4.55
AtrioventricularNode3.45
BDCA4+_DentriticCells7.4
Bonemarrow4.65
BronchialEpithelialCells4.15
CD105+_Endothelial4.45
CD14+_Monocytes6.85
CD19+_BCells(neg._sel.)4.7
CD33+_Myeloid13.35
CD34+6.85
CD4+_Tcells6.1
CD56+_NKCells5.3
CD71+_EarlyErythroid4.2
CD8+_Tcells4.35
CardiacMyocytes5.7
Caudatenucleus4
Cerebellum3.6
CerebellumPeduncles5.1
CiliaryGanglion3.05
CingulateCortex4.55
Colorectaladenocarcinoma4.4
DorsalRootGanglion3.5
FetalThyroid4.35
Fetalbrain4.35
Fetalliver3.8
Fetallung3.6
GlobusPallidus3.25
Heart6.85
Hypothalamus4.9
Kidney3.65
Leukemia_chronicMyelogenousK-5624.05
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)3.55
Liver5.9
Lung4.9
Lymphnode3.85
Lymphoma_burkitts(Daudi)5.65
Lymphoma_burkitts(Raji)6.15
MedullaOblongata4
OccipitalLobe4.05
OlfactoryBulb3.7
Ovary2.85
Pancreas3.6
PancreaticIslet6.45
ParietalLobe4.75
Pituitary5.2
Placenta4.65
Pons4.2
PrefrontalCortex5.65
Prostate5.2
Salivarygland3.55
SkeletalMuscle5.85
Skin3.5
SmoothMuscle5
Spinalcord4.75
SubthalamicNucleus6.15
SuperiorCervicalGanglion5.1
TemporalLobe5.6
Testis3.9
TestisGermCell3.6
TestisIntersitial3.6
TestisLeydigCell4.4
TestisSeminiferousTubule3.75
Thalamus4.55
Thymus3.55
Thyroid5.45
Tongue4.4
Tonsil4.35
Trachea3.75
TrigeminalGanglion4.35
Uterus3.75
UterusCorpus4
WholeBlood7.45
Wholebrain3.7
colon4.5
pineal_day59.4
pineal_night70.96
retina5.425
small_intestine5.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P62967
  • 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
Amygdala5.47 ± 0.45
Basal Forebrain5.6 ± 0.34
Basal Part of Pons5.13 ± 0.33
Cerebellar Cortex5.03 ± 0.24
Cerebellar Nuclei5.98 ± 0.27
Claustrum4.48 ± 0.58
Epithalamus5.2 ± 0.83
Frontal Lobe5.47 ± 0.47
Globus Pallidus6.62 ± 0.37
Hypothalamus5.48 ± 0.54
Insula5.5 ± 0.29
Limbic Lobe5.41 ± 0.55
Mesencephalon5.68 ± 0.47
Myelencephalon5.5 ± 0.57
Occipital Lobe5.27 ± 0.55
Parietal Lobe5.32 ± 0.53
Pontine Tegmentum5.57 ± 0.73
Striatum6.24 ± 0.39
Subthalamus5.98 ± 0.2
Temporal Lobe5.5 ± 0.4
Thalamus5.69 ± 0.46
White Matter6.74 ± 0.25
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


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