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
Post Translation Modification Top
Location(AA) Modification
58Phosphoserine (By similarity).
62Phosphoserine.
64Phosphoserine.
104Phosphoserine.
106Phosphoserine.
124Phosphoserine.
126Phosphoserine.
171Phosphoserine.
175Phosphothreonine.
176Phosphoserine.
223Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015324
  • Location:chr11 6577729-6581386
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 6580690 6582214 1524 66
Rb SenescentGSE19898 6581098 6581699 601 12
p130 shRbSenescentGSE19898 6581080 6581743 663 25
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me2 HCT116GSE10453 6579425 6580871 1446 0
H3K4me3 colorectalcancer 6580177 6581239 1062 0
H3ac HepG2E 6579245 6579769 524 0
H3ac HepG2E 6580136 6581168 1032 0
Myc K562GSE19551 6580873 6581780 907 0
Validated miRNA targets Top
No data
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
868 Unknown pSILAC let-7b KIAA0409 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000132275 n_a n_a n_a "epithelium, lymphocyte" "benign tumour, malignant tumour, carcinoma, leukaemia, non-Hodgkin's, sarcoma"
Cis-Nats regulation 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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