AutismKB 2.0

Annotation Detail for DIS3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DIS3 ( DKFZp667L1817,EXOSC11,FLJ10484,KIAA1008,MGC33035,RP11-342J4.3,RRP44,bA555G22.1,dis3p )
Gene Full Name: DIS3 mitotic control homolog (S. cerevisiae)
Band: 13q21.33
Quick LinksEntrez ID:22894; OMIM: 607533; Uniprot ID:RRP44_HUMAN; ENSEMBL ID: ENSG00000083520; HGNC ID: 20604
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214194_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.05
Adipocyte4.95
AdrenalCortex5.1
Adrenalgland4.2
Amygdala6.6
Appendix5.1
AtrioventricularNode4.55
BDCA4+_DentriticCells5.35
Bonemarrow5.05
BronchialEpithelialCells4.75
CD105+_Endothelial5.05
CD14+_Monocytes5.25
CD19+_BCells(neg._sel.)5.25
CD33+_Myeloid6.45
CD34+6.05
CD4+_Tcells5.5
CD56+_NKCells5.7
CD71+_EarlyErythroid4.65
CD8+_Tcells5
CardiacMyocytes6.2
Caudatenucleus5.35
Cerebellum4.1
CerebellumPeduncles5.7
CiliaryGanglion3.9
CingulateCortex5.1
Colorectaladenocarcinoma5.1
DorsalRootGanglion3.95
FetalThyroid4.9
Fetalbrain5.7
Fetalliver5.95
Fetallung4.3
GlobusPallidus3.65
Heart6.85
Hypothalamus5.65
Kidney4.1
Leukemia_chronicMyelogenousK-5624.55
Leukemia_promyelocytic-HL-604.45
Leukemialymphoblastic(MOLT-4)4.05
Liver6.7
Lung5.6
Lymphnode4.75
Lymphoma_burkitts(Daudi)6.35
Lymphoma_burkitts(Raji)7.25
MedullaOblongata4.8
OccipitalLobe6.5
OlfactoryBulb4
Ovary3.35
Pancreas4.05
PancreaticIslet5.25
ParietalLobe5.4
Pituitary5.9
Placenta5.2
Pons5.1
PrefrontalCortex6.55
Prostate5.75
Salivarygland4.2
SkeletalMuscle6.05
Skin4.35
SmoothMuscle5.5
Spinalcord5.4
SubthalamicNucleus4.45
SuperiorCervicalGanglion6.7
TemporalLobe4.55
Testis4.4
TestisGermCell4.25
TestisIntersitial4.25
TestisLeydigCell4.9
TestisSeminiferousTubule4.3
Thalamus5.1
Thymus3.85
Thyroid6.45
Tongue5
Tonsil4.9
Trachea4.25
TrigeminalGanglion5.45
Uterus4.2
UterusCorpus6.05
WholeBlood5.6
Wholebrain4.4
colon5.1
pineal_day6.26
pineal_night6.18
retina6.875
small_intestine4.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P48416
  • 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
Amygdala5.08 ± 0.54
Basal Forebrain5.69 ± 0.18
Basal Part of Pons5.33 ± 0.36
Cerebellar Cortex5.95 ± 0.25
Cerebellar Nuclei5.31 ± 0.46
Claustrum4.94 ± 0.77
Epithalamus5.35 ± 0.53
Frontal Lobe5.39 ± 0.46
Globus Pallidus5.22 ± 0.32
Hypothalamus5.69 ± 0.3
Insula5.32 ± 0.47
Limbic Lobe5.28 ± 0.58
Mesencephalon5.47 ± 0.45
Myelencephalon5.37 ± 0.56
Occipital Lobe5.78 ± 0.34
Parietal Lobe5.41 ± 0.37
Pontine Tegmentum5.5 ± 0.52
Striatum5.19 ± 0.46
Subthalamus5.21 ± 0.8
Temporal Lobe5.4 ± 0.46
Thalamus5.46 ± 0.48
White Matter5.68 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2810028N01RikCBCerebellum8.64
8.13
2810028N01RikCTXCerebral cortex3.81
2.81
2810028N01RikHIPHippocampal region8.8
8.66
2810028N01RikHPFHippocampal formation6.8
6.09
2810028N01RikHYHypothalamus1.48
0.99
2810028N01RikLSXLateral septal complex0.42
0.27
2810028N01RikMBMidbrain2.87
2.59
2810028N01RikMYMedulla7.8
7.76
2810028N01RikOLFOlfactory bulb6.19
4.54
2810028N01RikPPons5.83
5.97
2810028N01RikPALPallidum1.24
1.01
2810028N01RikRHPRetrohippocampal region3.34
2.47
2810028N01RiksAMYStriatum-like amygdalar nuclei1.82
1.31
2810028N01RikSTRStriatum1.19
1.13
2810028N01RikSTRdStriatum dorsal region0.7
0.95
2810028N01RikSTRvStriatum ventral region2.57
1.66
2810028N01RikTHThalamus1.82
1.63
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004668 15 211 225 LACLSEEGNEIESGK Peptide Atlas
RRP44_HUMAN_1 12 1 12 MLKSKTFLKKTR PRIDE
RRP44_HUMAN_485 11 485 495 PGNALDQESAR PRIDE

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