AutismKB 2.0

Annotation Detail for UBASH3A


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Basic Information Top
Gene Symbol:UBASH3A ( CLIP4,STS-2,TULA )
Gene Full Name: ubiquitin associated and SH3 domain containing A
Band: 21q22.3
Quick LinksEntrez ID:53347; OMIM: 605736; Uniprot ID:UBS3A_HUMAN; ENSEMBL ID: ENSG00000160185; HGNC ID: 12462
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 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile5 / 5555689
adult7 / 19391213
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia7 / 9584273
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
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 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 
blood10 / 12347880
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver2 / 2077439
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen5 / 5395292
stomach0 / 966190 
testis0 / 3304420 
thymus6 / 8113173
thyroid1 / 4747321
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: 220418_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.25
Adipocyte4.15
AdrenalCortex4.4
Adrenalgland3.55
Amygdala4.35
Appendix4.2
AtrioventricularNode3.3
BDCA4+_DentriticCells4.55
Bonemarrow4.15
BronchialEpithelialCells4.1
CD105+_Endothelial4.7
CD14+_Monocytes4.5
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.3
CD34+5.45
CD4+_Tcells196.05
CD56+_NKCells4.95
CD71+_EarlyErythroid3.9
CD8+_Tcells95.35
CardiacMyocytes5.4
Caudatenucleus3.8
Cerebellum3.35
CerebellumPeduncles4.8
CiliaryGanglion3.05
CingulateCortex4.25
Colorectaladenocarcinoma4.2
DorsalRootGanglion3.3
FetalThyroid4.1
Fetalbrain4.1
Fetalliver3.65
Fetallung3.4
GlobusPallidus3.15
Heart5.35
Hypothalamus4.5
Kidney3.4
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)6.95
Liver5.55
Lung4.55
Lymphnode5.45
Lymphoma_burkitts(Daudi)5.5
Lymphoma_burkitts(Raji)5.85
MedullaOblongata3.8
OccipitalLobe3.75
OlfactoryBulb3.3
Ovary2.75
Pancreas3.35
PancreaticIslet4.45
ParietalLobe4.4
Pituitary4.9
Placenta4.3
Pons4
PrefrontalCortex5.15
Prostate4.85
Salivarygland3.3
SkeletalMuscle4.9
Skin3.3
SmoothMuscle4.75
Spinalcord4.45
SubthalamicNucleus3.9
SuperiorCervicalGanglion4.8
TemporalLobe3.85
Testis3.6
TestisGermCell3.45
TestisIntersitial3.45
TestisLeydigCell4.15
TestisSeminiferousTubule3.6
Thalamus4.25
Thymus6.35
Thyroid5.2
Tongue4.1
Tonsil4.05
Trachea3.5
TrigeminalGanglion4.2
Uterus3.4
UterusCorpus3.75
WholeBlood4.6
Wholebrain3.5
colon4.2
pineal_day5.18
pineal_night5.1
retina5
small_intestine4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10025_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
Amygdala2.27 ± 1.14
Basal Forebrain1.74 ± 0.27
Basal Part of Pons1.49 ± 0.58
Cerebellar Cortex1.7 ± 0.86
Cerebellar Nuclei2.02 ± 0.73
Claustrum2.75 ± 1.03
Epithalamus1.53 ± 0.77
Frontal Lobe1.65 ± 0.82
Globus Pallidus2.61 ± 0.7
Hypothalamus2.08 ± 0.75
Insula1.63 ± 0.73
Limbic Lobe1.8 ± 0.8
Mesencephalon1.95 ± 0.89
Myelencephalon1.82 ± 0.77
Occipital Lobe1.87 ± 0.72
Parietal Lobe1.79 ± 0.91
Pontine Tegmentum1.83 ± 0.73
Striatum1.93 ± 0.66
Subthalamus1.76 ± 0.67
Temporal Lobe1.75 ± 0.72
Thalamus1.73 ± 0.67
White Matter2.62 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ubash3aCBCerebellum47.29
48.63
Ubash3aCTXCerebral cortex67.53
56.77
Ubash3aHIPHippocampal region57.1
50.87
Ubash3aHPFHippocampal formation61.51
53.33
Ubash3aHYHypothalamus41.05
30.54
Ubash3aLSXLateral septal complex27.95
17.35
Ubash3aMBMidbrain42.27
35.93
Ubash3aMYMedulla39.27
41.05
Ubash3aOLFOlfactory bulb69.23
55.5
Ubash3aPPons44.29
42.78
Ubash3aPALPallidum26.59
24.27
Ubash3aRHPRetrohippocampal region70.42
56.8
Ubash3asAMYStriatum-like amygdalar nuclei27.05
19.39
Ubash3aSTRStriatum29.5
20.51
Ubash3aSTRdStriatum dorsal region26.23
17.94
Ubash3aSTRvStriatum ventral region45.95
32.6
Ubash3aTHThalamus45.76
41.02
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