AutismKB 2.0

Annotation Detail for RRP8


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Basic Information Top
Gene Symbol:RRP8 ( KIAA0409 )
Gene Full Name: ribosomal RNA processing 8, methyltransferase, homolog (yeast)
Band: 11p15.4
Quick LinksEntrez ID:23378; OMIM: NA; Uniprot ID:RRP8_HUMAN; ENSEMBL ID: ENSG00000132275; HGNC ID: 29030
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 body1 / 7076114
blastocyst1 / 6231916
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult75 / 193912138
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor23 / 26384587
glioma4 / 10688337
head and neck tumor8 / 13630258
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor7 / 10312767
lymphoma6 / 7175583
non-neoplasia1 / 9725010
normal101 / 336030730
ovarian tumor4 / 7668252
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor26 / 124949208
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood9 / 12347872
bone1 / 7165513
bone marrow0 / 488010 
brain15 / 110098913
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye5 / 21105423
heart0 / 896260 
intestine9 / 23447238
kidney9 / 21177742
larynx2 / 2414582
liver3 / 20774314
lung18 / 33697453
lymph2 / 4427045
lymph node5 / 9161054
mammary gland1 / 1532716
mouth0 / 670520 
muscle4 / 10771537
nerve1 / 1576863
ovary8 / 10205178
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta20 / 28082571
prostate9 / 18934547
salivary gland0 / 201550 
skin30 / 210574142
spleen3 / 5395255
stomach3 / 9661931
testis7 / 33044221
thymus0 / 811310 
thyroid3 / 4747363
tonsil7 / 16999411
trachea0 / 524130 
umbilical cord0 / 136800 
uterus14 / 23287860
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203170_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.2
Adipocyte13.1
AdrenalCortex26.5
Adrenalgland12.9
Amygdala15.2
Appendix33.25
AtrioventricularNode24.35
BDCA4+_DentriticCells10.45
Bonemarrow15.05
BronchialEpithelialCells12.6
CD105+_Endothelial14.65
CD14+_Monocytes16.3
CD19+_BCells(neg._sel.)15.65
CD33+_Myeloid17.75
CD34+15.7
CD4+_Tcells14.6
CD56+_NKCells17.45
CD71+_EarlyErythroid13.65
CD8+_Tcells12.65
CardiacMyocytes21.15
Caudatenucleus12.85
Cerebellum11.6
CerebellumPeduncles19.2
CiliaryGanglion21.6
CingulateCortex14.95
Colorectaladenocarcinoma13.1
DorsalRootGanglion15.25
FetalThyroid18.75
Fetalbrain14.4
Fetalliver13.3
Fetallung9.6
GlobusPallidus10.8
Heart32.65
Hypothalamus16
Kidney15
Leukemia_chronicMyelogenousK-56212.9
Leukemia_promyelocytic-HL-6012.9
Leukemialymphoblastic(MOLT-4)10.3
Liver25.1
Lung14.75
Lymphnode12.4
Lymphoma_burkitts(Daudi)20.6
Lymphoma_burkitts(Raji)22.55
MedullaOblongata13.45
OccipitalLobe13.15
OlfactoryBulb11.3
Ovary15.8
Pancreas13.05
PancreaticIslet16.9
ParietalLobe17.45
Pituitary15.55
Placenta12.15
Pons21.35
PrefrontalCortex18
Prostate15.7
Salivarygland13.5
SkeletalMuscle34.35
Skin23.8
SmoothMuscle16.3
Spinalcord15.45
SubthalamicNucleus15.2
SuperiorCervicalGanglion53.95
TemporalLobe14.65
Testis11.5
TestisGermCell10.5
TestisIntersitial12.65
TestisLeydigCell20.15
TestisSeminiferousTubule13.5
Thalamus15.9
Thymus9.1
Thyroid16.9
Tongue22.75
Tonsil21.2
Trachea11.85
TrigeminalGanglion31
Uterus11.35
UterusCorpus15.85
WholeBlood14.55
Wholebrain8.75
colon14.4
pineal_day16.18
pineal_night17.56
retina15.875
small_intestine13.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11569_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
Amygdala4.98 ± 0.41
Basal Forebrain5.09 ± 0.32
Basal Part of Pons4.95 ± 0.48
Cerebellar Cortex5.45 ± 0.34
Cerebellar Nuclei5.05 ± 0.48
Claustrum4.7 ± 0.69
Epithalamus5.31 ± 0.51
Frontal Lobe5.26 ± 0.4
Globus Pallidus5.39 ± 0.19
Hypothalamus5.18 ± 0.66
Insula5.2 ± 0.42
Limbic Lobe5.09 ± 0.4
Mesencephalon5.24 ± 0.35
Myelencephalon5.2 ± 0.45
Occipital Lobe4.99 ± 0.31
Parietal Lobe5.2 ± 0.39
Pontine Tegmentum5.2 ± 0.38
Striatum4.93 ± 0.4
Subthalamus5.33 ± 0.38
Temporal Lobe5.24 ± 0.38
Thalamus5.32 ± 0.47
White Matter5.96 ± 0.07
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1500003O22RikCBCerebellum0
0
1500003O22RikCTXCerebral cortex0
0
1500003O22RikHIPHippocampal region0
0
1500003O22RikHPFHippocampal formation0
0
1500003O22RikHYHypothalamus0
0
1500003O22RikLSXLateral septal complex0
0
1500003O22RikMBMidbrain0
0
1500003O22RikMYMedulla0
0
1500003O22RikOLFOlfactory bulb0
0
1500003O22RikPPons0
0
1500003O22RikPALPallidum0
0
1500003O22RikRHPRetrohippocampal region0
0
1500003O22RiksAMYStriatum-like amygdalar nuclei0
0
1500003O22RikSTRStriatum0
0
1500003O22RikSTRdStriatum dorsal region0
0
1500003O22RikSTRvStriatum ventral region0
0
1500003O22RikTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000662 14 441 454 AQLSGLQLQPCLYK Peptide Atlas
RRP8_HUMAN_161 25 161 185 GSTTNDPPKQSPGSTSPKPPHTLSR PRIDE
RRP8_HUMAN_220 8 220 227 TEVSPVPR 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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