AutismKB 2.0

Annotation Detail for SNRNP40


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Basic Information Top
Gene Symbol:SNRNP40 ( 40K,FLJ41108,HPRP8BP,MGC1910,PRP8BP,PRPF8BP,RP11-490K7.3,SPF38,WDR57 )
Gene Full Name: small nuclear ribonucleoprotein 40kDa (U5)
Band: 1p35.2
Quick LinksEntrez ID:9410; OMIM: 607797; Uniprot ID:SNR40_HUMAN; ENSEMBL ID: ENSG00000060688; HGNC ID: 30857
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 body7 / 7076198
blastocyst9 / 62319144
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult71 / 193912136
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 tumor2 / 3436658
chondrosarcoma4 / 8282348
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor9 / 26384534
glioma4 / 10688337
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma27 / 71755376
non-neoplasia2 / 9725020
normal111 / 336030733
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer4 / 10268038
retinoblastoma5 / 46356107
skin tumor6 / 12494948
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood7 / 12347856
bone4 / 7165555
bone marrow0 / 488010 
brain15 / 110098913
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus0 / 202090 
eye10 / 21105447
heart1 / 8962611
intestine10 / 23447242
kidney4 / 21177718
larynx2 / 2414582
liver9 / 20774343
lung5 / 33697414
lymph18 / 44270406
lymph node5 / 9161054
mammary gland1 / 1532716
mouth1 / 6705214
muscle7 / 10771564
nerve0 / 157680 
ovary5 / 10205148
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta12 / 28082542
prostate7 / 18934536
salivary gland1 / 2015549
skin10 / 21057447
spleen1 / 5395218
stomach8 / 9661982
testis7 / 33044221
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215905_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts210
Adipocyte18.3
AdrenalCortex18.7
Adrenalgland15.6
Amygdala19.2
Appendix19.15
AtrioventricularNode14.85
BDCA4+_DentriticCells21.1
Bonemarrow21.1
BronchialEpithelialCells30.95
CD105+_Endothelial47.6
CD14+_Monocytes29.65
CD19+_BCells(neg._sel.)23.7
CD33+_Myeloid23.7
CD34+32.9
CD4+_Tcells21.9
CD56+_NKCells26.4
CD71+_EarlyErythroid57.55
CD8+_Tcells19.15
CardiacMyocytes24.35
Caudatenucleus17.7
Cerebellum17.5
CerebellumPeduncles21.7
CiliaryGanglion13.15
CingulateCortex18.3
Colorectaladenocarcinoma19.05
DorsalRootGanglion16.9
FetalThyroid17.7
Fetalbrain18.5
Fetalliver21.4
Fetallung15
GlobusPallidus13.4
Heart23
Hypothalamus19.85
Kidney14.75
Leukemia_chronicMyelogenousK-56234.85
Leukemia_promyelocytic-HL-6031.55
Leukemialymphoblastic(MOLT-4)43.3
Liver24.75
Lung25.45
Lymphnode15.55
Lymphoma_burkitts(Daudi)51.35
Lymphoma_burkitts(Raji)25.35
MedullaOblongata16.95
OccipitalLobe16.45
OlfactoryBulb13.65
Ovary12.05
Pancreas9.85
PancreaticIslet25.25
ParietalLobe19.4
Pituitary32.1
Placenta19.15
Pons17.1
PrefrontalCortex22.65
Prostate21.35
Salivarygland14.85
SkeletalMuscle20.15
Skin18.75
SmoothMuscle26.6
Spinalcord19.7
SubthalamicNucleus16.6
SuperiorCervicalGanglion20.15
TemporalLobe16.75
Testis28.65
TestisGermCell15.05
TestisIntersitial21.75
TestisLeydigCell24.45
TestisSeminiferousTubule16.4
Thalamus18.3
Thymus40.1
Thyroid22.8
Tongue17.3
Tonsil18.55
Trachea15.2
TrigeminalGanglion17.95
Uterus15.05
UterusCorpus13.35
WholeBlood32.5
Wholebrain19.15
colon18.4
pineal_day22.22
pineal_night21.78
retina23.65
small_intestine21.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P45913
  • 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
Amygdala5.38 ± 0.51
Basal Forebrain5.58 ± 0.38
Basal Part of Pons5.67 ± 0.43
Cerebellar Cortex6.03 ± 0.31
Cerebellar Nuclei5.82 ± 0.48
Claustrum5.29 ± 0.71
Epithalamus5.63 ± 0.57
Frontal Lobe5.46 ± 0.43
Globus Pallidus5.91 ± 0.53
Hypothalamus5.57 ± 0.24
Insula5.49 ± 0.47
Limbic Lobe5.51 ± 0.51
Mesencephalon5.71 ± 0.51
Myelencephalon5.59 ± 0.51
Occipital Lobe5.7 ± 0.48
Parietal Lobe5.59 ± 0.47
Pontine Tegmentum5.53 ± 0.47
Striatum5.46 ± 0.5
Subthalamus5.89 ± 0.34
Temporal Lobe5.57 ± 0.5
Thalamus5.65 ± 0.42
White Matter6.71 ± 0.16
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001374 22 52 73 CSSLQAPIMLLSGHEGEVYCCK Peptide Atlas
SNR40_HUMAN_1 7 1 7 MIEQQKR 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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