AutismKB 2.0

Annotation Detail for USH2A


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Basic Information Top
Gene Symbol:USH2A ( RP39,US2,USH2,dJ1111A8.1 )
Gene Full Name: Usher syndrome 2A (autosomal recessive, mild)
Band: 1q41
Quick LinksEntrez ID:7399; OMIM: 608400; Uniprot ID:USH2A_HUMAN; ENSEMBL ID: ENSG00000042781; HGNC ID: 12601
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 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult23 / 193912111
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 tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal13 / 33603073
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 tumor13 / 125191103
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 
brain1 / 11009890 
cervix0 / 481710 
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
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 
testis3 / 3304429
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: 207706_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.75
Adipocyte5.75
AdrenalCortex7
Adrenalgland5.15
Amygdala6
Appendix6.8
AtrioventricularNode5.5
BDCA4+_DentriticCells6.2
Bonemarrow6.3
BronchialEpithelialCells5.85
CD105+_Endothelial5.85
CD14+_Monocytes6.35
CD19+_BCells(neg._sel.)6.25
CD33+_Myeloid7.4
CD34+7.35
CD4+_Tcells6.35
CD56+_NKCells6.65
CD71+_EarlyErythroid5.65
CD8+_Tcells5.35
CardiacMyocytes8.95
Caudatenucleus5.35
Cerebellum4.85
CerebellumPeduncles7
CiliaryGanglion4.75
CingulateCortex6.2
Colorectaladenocarcinoma6
DorsalRootGanglion5
FetalThyroid5.8
Fetalbrain5.95
Fetalliver5.25
Fetallung4.75
GlobusPallidus4.65
Heart8.8
Hypothalamus6.15
Kidney5.3
Leukemia_chronicMyelogenousK-5625.4
Leukemia_promyelocytic-HL-605.25
Leukemialymphoblastic(MOLT-4)4.55
Liver8.55
Lung6.55
Lymphnode4.95
Lymphoma_burkitts(Daudi)7.75
Lymphoma_burkitts(Raji)8.9
MedullaOblongata7.4
OccipitalLobe5.25
OlfactoryBulb4.6
Ovary4.2
Pancreas4.9
PancreaticIslet6.4
ParietalLobe6.45
Pituitary6.95
Placenta6
Pons5.8
PrefrontalCortex7.05
Prostate6.85
Salivarygland4.8
SkeletalMuscle7.95
Skin4.9
SmoothMuscle6.75
Spinalcord6.4
SubthalamicNucleus5.55
SuperiorCervicalGanglion8.15
TemporalLobe5.55
Testis5.1
TestisGermCell4.85
TestisIntersitial5.1
TestisLeydigCell6.1
TestisSeminiferousTubule5.15
Thalamus6.1
Thymus4.7
Thyroid7.2
Tongue6.3
Tonsil5.8
Trachea4.9
TrigeminalGanglion6.35
Uterus4.75
UterusCorpus5.7
WholeBlood6.5
Wholebrain5
colon6.05
pineal_day13.1
pineal_night8.98
retina7.25
small_intestine5.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P86301
  • 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
Amygdala2.23 ± 0.97
Basal Forebrain1.84 ± 0.21
Basal Part of Pons1.59 ± 0.54
Cerebellar Cortex1.67 ± 0.7
Cerebellar Nuclei2.15 ± 0.79
Claustrum2.74 ± 0.89
Epithalamus1.57 ± 0.75
Frontal Lobe1.7 ± 0.64
Globus Pallidus2.54 ± 0.37
Hypothalamus2.12 ± 0.53
Insula1.8 ± 0.54
Limbic Lobe1.88 ± 0.66
Mesencephalon1.99 ± 0.69
Myelencephalon1.91 ± 0.67
Occipital Lobe2.01 ± 0.72
Parietal Lobe1.83 ± 0.74
Pontine Tegmentum1.91 ± 0.68
Striatum2.01 ± 0.51
Subthalamus1.91 ± 0.61
Temporal Lobe1.75 ± 0.59
Thalamus1.82 ± 0.59
White Matter2.29 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ush2aCBCerebellum0.84
1.37
Ush2aCTXCerebral cortex1.06
1.2
Ush2aHIPHippocampal region0.42
0.57
Ush2aHPFHippocampal formation0.33
0.41
Ush2aHYHypothalamus0.15
0.19
Ush2aLSXLateral septal complex0.1
0
Ush2aMBMidbrain0.69
0.98
Ush2aMYMedulla0.94
0.96
Ush2aOLFOlfactory bulb0.33
0.35
Ush2aPPons1.02
1.16
Ush2aPALPallidum8.03
11.64
Ush2aRHPRetrohippocampal region0.15
0.17
Ush2asAMYStriatum-like amygdalar nuclei0.23
0.17
Ush2aSTRStriatum0.43
0.46
Ush2aSTRdStriatum dorsal region0.42
0.39
Ush2aSTRvStriatum ventral region0.61
0.96
Ush2aTHThalamus0.35
0.58
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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