AutismKB 2.0

Annotation Detail for OTUD4


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Basic Information Top
Gene Symbol:OTUD4 ( DKFZp434I0721,DUBA6,HIN1,HSHIN1,KIAA1046 )
Gene Full Name: OTU domain containing 4
Band: 4q31.21
Quick LinksEntrez ID:54726; OMIM: 611744; Uniprot ID:OTUD4_HUMAN; ENSEMBL ID: ENSG00000164164; HGNC ID: 24949
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 body3 / 7076142
blastocyst4 / 6231964
fetus40 / 56401270
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult70 / 193912136
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor8 / 9417884
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor7 / 26384526
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor5 / 9635951
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal162 / 336030748
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites2 / 4001549
bladder2 / 2975767
blood3 / 12347824
bone4 / 7165555
bone marrow1 / 4880120
brain25 / 110098922
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus1 / 2020949
eye10 / 21105447
heart1 / 8962611
intestine5 / 23447221
kidney8 / 21177737
larynx0 / 241450 
liver11 / 20774352
lung20 / 33697459
lymph2 / 4427045
lymph node10 / 91610109
mammary gland13 / 15327184
mouth4 / 6705259
muscle11 / 107715102
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta8 / 28082528
prostate3 / 18934515
salivary gland0 / 201550 
skin8 / 21057437
spleen0 / 539520 
stomach2 / 9661920
testis18 / 33044254
thymus7 / 8113186
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus13 / 23287855
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203479_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6
Adipocyte4.55
AdrenalCortex4.85
Adrenalgland3.9
Amygdala4.75
Appendix4.7
AtrioventricularNode3.65
BDCA4+_DentriticCells5.3
Bonemarrow4.5
BronchialEpithelialCells4.6
CD105+_Endothelial4.7
CD14+_Monocytes5.6
CD19+_BCells(neg._sel.)5.2
CD33+_Myeloid7
CD34+6.4
CD4+_Tcells7.5
CD56+_NKCells6.25
CD71+_EarlyErythroid4.3
CD8+_Tcells4.75
CardiacMyocytes6.2
Caudatenucleus4.15
Cerebellum3.75
CerebellumPeduncles5.2
CiliaryGanglion3.3
CingulateCortex4.75
Colorectaladenocarcinoma4.65
DorsalRootGanglion3.65
FetalThyroid4.45
Fetalbrain4.65
Fetalliver4
Fetallung3.9
GlobusPallidus3.35
Heart5.75
Hypothalamus4.9
Kidney3.75
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)3.75
Liver6.05
Lung5
Lymphnode4.05
Lymphoma_burkitts(Daudi)6.5
Lymphoma_burkitts(Raji)6.4
MedullaOblongata4.25
OccipitalLobe4.1
OlfactoryBulb3.65
Ovary3.05
Pancreas3.7
PancreaticIslet4.95
ParietalLobe4.85
Pituitary5.4
Placenta4.85
Pons4.4
PrefrontalCortex5.65
Prostate5.2
Salivarygland3.65
SkeletalMuscle5.55
Skin3.55
SmoothMuscle5.2
Spinalcord4.9
SubthalamicNucleus4.15
SuperiorCervicalGanglion5.3
TemporalLobe4.2
Testis4.55
TestisGermCell4.75
TestisIntersitial6.5
TestisLeydigCell6.95
TestisSeminiferousTubule5.5
Thalamus4.65
Thymus3.7
Thyroid5.8
Tongue4.5
Tonsil4.45
Trachea3.85
TrigeminalGanglion4.7
Uterus3.75
UterusCorpus4.1
WholeBlood5.05
Wholebrain3.75
colon4.65
pineal_day5.74
pineal_night5.46
retina5.5
small_intestine4.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P69637
  • 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
Amygdala3.7 ± 0.83
Basal Forebrain3.18 ± 0.4
Basal Part of Pons3.15 ± 0.35
Cerebellar Cortex3.4 ± 0.52
Cerebellar Nuclei3.5 ± 0.67
Claustrum3.48 ± 0.63
Epithalamus3.42 ± 0.63
Frontal Lobe3.41 ± 0.62
Globus Pallidus4.18 ± 0.55
Hypothalamus3.43 ± 0.5
Insula3.41 ± 0.41
Limbic Lobe3.4 ± 0.62
Mesencephalon3.61 ± 0.57
Myelencephalon3.53 ± 0.59
Occipital Lobe3.45 ± 0.53
Parietal Lobe3.49 ± 0.56
Pontine Tegmentum3.54 ± 0.65
Striatum3.82 ± 0.56
Subthalamus4.5 ± 1.53
Temporal Lobe3.5 ± 0.59
Thalamus3.42 ± 0.52
White Matter4.82 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Otud4CBCerebellum6.65
6.31
Otud4CTXCerebral cortex4.43
3.09
Otud4HIPHippocampal region8.47
8
Otud4HPFHippocampal formation5.92
5.1
Otud4HYHypothalamus0.11
0.14
Otud4LSXLateral septal complex3.93
2.57
Otud4MBMidbrain0.44
0.54
Otud4MYMedulla1.89
2.17
Otud4OLFOlfactory bulb4.74
3.07
Otud4PPons0.84
0.9
Otud4PALPallidum0.3
0.25
Otud4RHPRetrohippocampal region1.51
1.02
Otud4sAMYStriatum-like amygdalar nuclei0.32
0.22
Otud4STRStriatum1.7
1.1
Otud4STRdStriatum dorsal region1.2
0.78
Otud4STRvStriatum ventral region3.48
2.1
Otud4THThalamus1.13
0.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
OTUD4_HUMAN_1 19 1 19 MEAAVGVPDGGDQGGAGPR PRIDE
PAp00133712 20 851 870 GEHVHSLPEASVSSKPDEGR 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