AutismKB 2.0

Annotation Detail for RRP12


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Basic Information Top
Gene Symbol:RRP12 ( DKFZp762P1116,FLJ20231,KIAA0690 )
Gene Full Name: ribosomal RNA processing 12 homolog (S. cerevisiae)
Band: 10q24.1
Quick LinksEntrez ID:23223; OMIM: NA; Uniprot ID:RRP12_HUMAN; ENSEMBL ID: ENSG00000052749; HGNC ID: 29100
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
49Phosphoserine.
52Phosphothreonine.
72Phosphoserine.
77Phosphothreonine.
1049Phosphoserine.
1072Phosphoserine.
1080Phosphoserine.
Location(AA) Modifications Resource
1049Phosphoserine.Swiss-Prot 53.0
1080Phosphoserine.Swiss-Prot 53.0
1080PhosphoserinePhospho.ELM 6.0
1080PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
46Phosphoserine(CK2)HMM predict
77Phosphothreonine(MAPK)HMM predict
104N-linkedHMM predict
137Phosphoserine(ATM)HMM predict
153Phosphothreonine(PKC)HMM predict
160PhosphoserineHMM predict
163Phosphoserine(IKK)HMM predict
203O-linkedHMM predict
203Phosphoserine(IKK)HMM predict
204O-linkedHMM predict
204Phosphoserine(IKK)HMM predict
298O-linkedHMM predict
335Phosphothreonine(PKC)HMM predict
377SulfotyrosineHMM predict
426Phosphoserine(MAPK)HMM predict
429Phosphoserine(IKK)HMM predict
433O-linkedHMM predict
456Phosphoserine(CK1)HMM predict
458O-linkedHMM predict
460Phosphoserine(IKK)HMM predict
460O-linkedHMM predict
462Phosphoserine(IKK)HMM predict
522Phosphoserine(CDK)HMM predict
522Phosphoserine(CDC2)HMM predict
608Phosphoserine(IKK)HMM predict
609Phosphothreonine(PKC)HMM predict
615Phosphotyrosine(INSR)HMM predict
615Phosphotyrosine(Syk)HMM predict
634Phosphothreonine(PKA)HMM predict
706Phosphothreonine(MAPK)HMM predict
792Phosphotyrosine(Jak)HMM predict
801Phosphoserine(CDC2)HMM predict
801Phosphoserine(IKK)HMM predict
830Phosphoserine(CDC2)HMM predict
830Phosphoserine(CDK)HMM predict
848Phosphoserine(PKG)HMM predict
1049Phosphoserine(PKG)HMM predict
1072Phosphoserine(CK2)HMM predict
1080PhosphoserineHMM predict
1080Phosphoserine(CK2)HMM predict
1257N-linkedHMM predict
1262N-linkedHMM predict
1284Phosphoserine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015179
  • Location:chr10 99106448-99151054
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 99158130 99158784 654 7403
ETS1 JurkatGSE17954 99150678 99151469 791 19
KLF4 hESGSE17917 99157191 99157490 299 6286
Myc K562GSE19551 99150795 99151347 552 17
Nanog ESGSE20650 99151010 99151236 226 69
RARG MCF7GSE15244 99158310 99158560 250 7381
TAFII hESGSE17917 99150789 99151357 568 19
TAFII hESGSE17917 99157300 99157495 195 6343
hScc1 BcellGSE12603 99156988 99157523 535 6201
hScc1 CdLSGSE12603 99156988 99157523 535 6201
hScc1 G2GSE9613 99156988 99157523 535 6201
p63 keratinocytesGSE17611 99162332 99163364 1032 11794
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 99105420 99105675 255 901
CTCF CD4SISSRdata 99105420 99105675 255 901
hScc1 CdLSGSE12603 99105340 99105555 215 1001
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 99149969 99151246 1277 0
GABP HelaGSE8489 99149864 99151246 1382 0
GABP k562GSE8489 99149725 99151246 1521 0
H3K4me3 colorectalcancer 99150226 99150922 696 0
H3ac HepG2E 99149725 99151106 1381 0
Oct1 HelaGSE14283 99135521 99135557 36 0
Oct1 HelaGSE14283 99144515 99144551 36 0
RARG MCF7GSE15244 99150808 99151175 367 0
TFAP2C MCF7GSE21234 99110511 99110968 457 0
hScc1 BcellGSE12603 99120190 99120435 245 0
hScc1 BcellGSE12603 99133718 99134830 1112 0
hScc1 G2GSE9613 99133785 99134453 668 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
3531 EST chr10 99150861 99169271 194 mRNA KIAA0690 chr10 99106448 99151055Sense/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