AutismKB 2.0

Annotation Detail for RPP40


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Basic Information Top
Gene Symbol:RPP40 ( RNASEP1,bA428J1.3 )
Gene Full Name: ribonuclease P/MRP 40kDa subunit
Band: 6p25.1
Quick LinksEntrez ID:10799; OMIM: 606117; Uniprot ID:RPP40_HUMAN; ENSEMBL ID: ENSG00000124787; HGNC ID: 20992
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
64Phosphotyrosine(Syk)HMM predict
74Phosphoserine(ATM)HMM predict
102Phosphotyrosine(INSR)HMM predict
102Phosphotyrosine(Syk)HMM predict
153Phosphothreonine(PKC)HMM predict
209O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006638
  • Location:chr6 4940279-4949269
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 4948638 4950012 1374 56
H3ac HepG2E 4949614 4950229 615 652
H3ac HepG2E 4951101 4951579 478 2071
RARA MCF7GSE15244 4958704 4958944 240 9555
Stat6 IL-4-hr1GSE17850 4949785 4950336 551 791
TAF k562GSE8489 4950064 4950229 165 877
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 4930195 4930615 420 9875
Fos K562GSE19551 4929857 4930634 777 10034
Oct1 H2O2-HelaGSE14283 4940250 4940281 31 14
Oct1 HelaGSE14283 4940251 4940280 29 14
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 4948640 4949682 1042 0
H3ac HepG2E 4947731 4948274 543 0
Myc K562GSE19551 4943215 4943529 314 0
Oct1 HelaGSE14283 4943294 4943324 30 0
Oct1 HelaGSE14283 4947516 4947545 29 0
PHF8 HeLaGSE20725 4948460 4949982 1522 0
hScc1 BcellGSE12603 4948606 4949475 869 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
22081 mRNA LOC285778 chr6 4949048 5185728 80 mRNA RPP40 chr6 4940279 4949270Sense/Antisense (SA) pairs

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