AutismKB 2.0

Annotation Detail for SNRNP200


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Basic Information Top
Gene Symbol:SNRNP200 ( ASCC3L1,BRR2,FLJ11521,HELIC2,RP33,U5-200KD )
Gene Full Name: small nuclear ribonucleoprotein 200kDa (U5)
Band: 2q11.2
Quick LinksEntrez ID:23020; OMIM: 601664; Uniprot ID:U520_HUMAN; ENSEMBL ID: ENSG00000144028; HGNC ID: 30859
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 body27 / 70761381
blastocyst26 / 62319417
fetus94 / 564012166
neonate6 / 31097192
infant1 / 2362042
juvenile8 / 55556143
adult480 / 1939121247
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma4 / 17475228
breast (mammary gland) tumor27 / 94178286
cervical tumor6 / 34366174
chondrosarcoma25 / 82823301
colorectal tumor49 / 114246428
esophageal tumor7 / 17290404
gastrointestinal tumor16 / 119369134
germ cell tumor94 / 263845356
glioma23 / 106883215
head and neck tumor62 / 136302454
kidney tumor20 / 68959290
leukemia21 / 95842219
liver tumor20 / 96359207
lung tumor46 / 103127446
lymphoma26 / 71755362
non-neoplasia12 / 97250123
normal554 / 3360307164
ovarian tumor17 / 76682221
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer11 / 102680107
retinoblastoma11 / 46356237
skin tumor48 / 124949384
soft tissue/muscle tissue tumor22 / 125191175
uterine tumor32 / 90257354
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland2 / 3319760
ascites4 / 4001599
bladder9 / 29757302
blood23 / 123478186
bone21 / 71655293
bone marrow1 / 4880120
brain161 / 1100989146
cervix6 / 48171124
connective tissue18 / 149255120
ear1 / 1621261
embryonic tissue76 / 215722352
esophagus7 / 20209346
eye41 / 211054194
heart16 / 89626178
intestine63 / 234472268
kidney29 / 211777136
larynx36 / 241451490
liver24 / 207743115
lung80 / 336974237
lymph17 / 44270384
lymph node46 / 91610502
mammary gland34 / 153271221
mouth20 / 67052298
muscle11 / 107715102
nerve2 / 15768126
ovary24 / 102051235
pancreas30 / 214812139
parathyroid2 / 2053997
pharynx3 / 4132872
pituitary gland3 / 16585180
placenta86 / 280825306
prostate24 / 189345126
salivary gland0 / 201550 
skin57 / 210574270
spleen7 / 53952129
stomach17 / 96619175
testis75 / 330442226
thymus18 / 81131221
thyroid9 / 47473189
tonsil7 / 16999411
trachea7 / 52413133
umbilical cord10 / 13680730
uterus74 / 232878317
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200058_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1473.2
Adipocyte220.4
AdrenalCortex286.1
Adrenalgland204.1
Amygdala320.7
Appendix133.85
AtrioventricularNode96.25
BDCA4+_DentriticCells1043.3
Bonemarrow318.6
BronchialEpithelialCells420.85
CD105+_Endothelial1625.75
CD14+_Monocytes612.45
CD19+_BCells(neg._sel.)888.45
CD33+_Myeloid868.25
CD34+1441.9
CD4+_Tcells1227.85
CD56+_NKCells1395.3
CD71+_EarlyErythroid655
CD8+_Tcells1345.8
CardiacMyocytes248.65
Caudatenucleus212.55
Cerebellum250.65
CerebellumPeduncles389.25
CiliaryGanglion103
CingulateCortex225.35
Colorectaladenocarcinoma1168
DorsalRootGanglion108
FetalThyroid539.85
Fetalbrain468
Fetalliver376.55
Fetallung473.55
GlobusPallidus172.55
Heart209.75
Hypothalamus414.95
Kidney203
Leukemia_chronicMyelogenousK-562648.55
Leukemia_promyelocytic-HL-60540.75
Leukemialymphoblastic(MOLT-4)764.05
Liver371.8
Lung430.9
Lymphnode535.3
Lymphoma_burkitts(Daudi)699.55
Lymphoma_burkitts(Raji)676.5
MedullaOblongata176.95
OccipitalLobe229.85
OlfactoryBulb299.9
Ovary158.75
Pancreas286.1
PancreaticIslet435.6
ParietalLobe185.25
Pituitary464.3
Placenta707.3
Pons155.1
PrefrontalCortex487.05
Prostate634.5
Salivarygland256.35
SkeletalMuscle144.3
Skin132.95
SmoothMuscle388.9
Spinalcord311.15
SubthalamicNucleus178
SuperiorCervicalGanglion104.35
TemporalLobe140.75
Testis548.8
TestisGermCell590.45
TestisIntersitial482.9
TestisLeydigCell450.8
TestisSeminiferousTubule516.35
Thalamus216.25
Thymus762.35
Thyroid618.6
Tongue227.95
Tonsil464
Trachea218.65
TrigeminalGanglion104.9
Uterus364.85
UterusCorpus139.2
WholeBlood443.15
Wholebrain242.1
colon497.05
pineal_day774.1
pineal_night696.04
retina764.325
small_intestine502.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8263_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
Amygdala6.37 ± 0.63
Basal Forebrain6.65 ± 0.4
Basal Part of Pons6.96 ± 0.63
Cerebellar Cortex7.05 ± 0.44
Cerebellar Nuclei6.4 ± 0.52
Claustrum5.84 ± 0.86
Epithalamus7.01 ± 0.72
Frontal Lobe6.75 ± 0.5
Globus Pallidus6.2 ± 0.15
Hypothalamus6.79 ± 0.42
Insula6.89 ± 0.48
Limbic Lobe6.27 ± 0.68
Mesencephalon6.45 ± 0.64
Myelencephalon6.55 ± 0.61
Occipital Lobe6.17 ± 0.6
Parietal Lobe6.48 ± 0.63
Pontine Tegmentum6.44 ± 0.44
Striatum6.21 ± 0.5
Subthalamus6.47 ± 0.21
Temporal Lobe6.69 ± 0.52
Thalamus6.67 ± 0.45
White Matter6.28 ± 0.43
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000444 17 737 753 AIRDMCLEKDTLGLFLR Peptide Atlas
U520_HUMAN_1474 10 1474 1483 MRYISSQIER PRIDE
U520_HUMAN_1962 11 1962 1972 QLPHFTSEHIK PRIDE
U520_HUMAN_222 16 222 237 EEASDDDMEGDEAVVR PRIDE
U520_HUMAN_247 19 247 265 PVPLEQTYVGITEKKAIKR PRIDE
U520_HUMAN_387 20 387 406 MDTDLETMDLDQGGEALAPR PRIDE
U520_HUMAN_59 9 59 67 TKPQMQEER PRIDE
U520_HUMAN_953 14 953 966 RLDLVHTAALMLDK 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


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