AutismKB 2.0

Annotation Detail for USH1C


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Basic Information Top
Gene Symbol:USH1C ( AIE-75,DFNB18,NY-CO-37,NY-CO-38,PDZ-45,PDZ-73,PDZ-73/NY-CO-38,PDZ73,ush1cpst )
Gene Full Name: Usher syndrome 1C (autosomal recessive, severe)
Band: 11p15.1
Quick LinksEntrez ID:10083; OMIM: 605242; Uniprot ID:USH1C_HUMAN; ENSEMBL ID: ENSG00000006611; HGNC ID: 12597
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 
adult48 / 193912124
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 tumor3 / 3436687
chondrosarcoma0 / 828230 
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal66 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
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 
ascites1 / 4001524
bladder1 / 2975733
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain28 / 110098925
cervix10 / 48171207
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine34 / 234472145
kidney25 / 211777118
larynx0 / 241450 
liver1 / 2077434
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach3 / 9661931
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211184_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.7
Adipocyte4.75
AdrenalCortex5.75
Adrenalgland4.15
Amygdala5.35
Appendix6.35
AtrioventricularNode3.85
BDCA4+_DentriticCells5.2
Bonemarrow4.95
BronchialEpithelialCells4.65
CD105+_Endothelial4.9
CD14+_Monocytes5.05
CD19+_BCells(neg._sel.)5.05
CD33+_Myeloid6
CD34+6.05
CD4+_Tcells5.15
CD56+_NKCells5.55
CD71+_EarlyErythroid4.55
CD8+_Tcells4.5
CardiacMyocytes6.65
Caudatenucleus4.35
Cerebellum4.1
CerebellumPeduncles5.55
CiliaryGanglion3.5
CingulateCortex5.05
Colorectaladenocarcinoma5.9
DorsalRootGanglion3.85
FetalThyroid5.05
Fetalbrain4.8
Fetalliver4.25
Fetallung3.9
GlobusPallidus3.55
Heart7.55
Hypothalamus8
Kidney29.55
Leukemia_chronicMyelogenousK-5624.35
Leukemia_promyelocytic-HL-604.25
Leukemialymphoblastic(MOLT-4)3.85
Liver7.1
Lung5.3
Lymphnode4.15
Lymphoma_burkitts(Daudi)6.25
Lymphoma_burkitts(Raji)7.05
MedullaOblongata5.25
OccipitalLobe4.45
OlfactoryBulb3.8
Ovary3.25
Pancreas39.8
PancreaticIslet6.5
ParietalLobe7.4
Pituitary6.4
Placenta4.95
Pons4.65
PrefrontalCortex5.95
Prostate5.65
Salivarygland3.85
SkeletalMuscle7.5
Skin3.85
SmoothMuscle5.45
Spinalcord49.7
SubthalamicNucleus4.45
SuperiorCervicalGanglion5.9
TemporalLobe4.4
Testis4.4
TestisGermCell3.95
TestisIntersitial3.95
TestisLeydigCell4.8
TestisSeminiferousTubule4.1
Thalamus6.8
Thymus3.75
Thyroid6.4
Tongue4.9
Tonsil4.7
Trachea4.05
TrigeminalGanglion5.05
Uterus3.9
UterusCorpus6.5
WholeBlood5.25
Wholebrain8.6
colon18.55
pineal_day5.92
pineal_night5.9
retina37.7
small_intestine35.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15992_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
Amygdala3.3 ± 0.76
Basal Forebrain3.33 ± 0.71
Basal Part of Pons5.07 ± 0.46
Cerebellar Cortex2.89 ± 0.63
Cerebellar Nuclei3.43 ± 1.14
Claustrum3.77 ± 1.06
Epithalamus4.77 ± 0.71
Frontal Lobe3.33 ± 0.98
Globus Pallidus5.66 ± 0.65
Hypothalamus3.59 ± 0.97
Insula3.05 ± 0.94
Limbic Lobe4.15 ± 1.33
Mesencephalon3.94 ± 1.05
Myelencephalon3.72 ± 1.05
Occipital Lobe4.32 ± 1.01
Parietal Lobe3.68 ± 1.21
Pontine Tegmentum3.18 ± 0.92
Striatum5.09 ± 0.96
Subthalamus3.12 ± 0.77
Temporal Lobe3.36 ± 1.02
Thalamus3.3 ± 0.96
White Matter6.79 ± 0.67
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ush1cCBCerebellum0
0
Ush1cCTXCerebral cortex0
0
Ush1cHIPHippocampal region0
0
Ush1cHPFHippocampal formation0
0
Ush1cHYHypothalamus0
0
Ush1cLSXLateral septal complex0
0
Ush1cMBMidbrain0
0
Ush1cMYMedulla0
0
Ush1cOLFOlfactory bulb0
0
Ush1cPPons0
0
Ush1cPALPallidum0
0
Ush1cRHPRetrohippocampal region0
0
Ush1csAMYStriatum-like amygdalar nuclei0
0
Ush1cSTRStriatum0
0
Ush1cSTRdStriatum dorsal region0
0
Ush1cSTRvStriatum ventral region0
0
Ush1cTHThalamus0
0
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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