AutismKB 2.0

Annotation Detail for RTDR1


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Basic Information Top
Gene Symbol:RTDR1 ( MGC16968 )
Gene Full Name: rhabdoid tumor deletion region gene 1
Band: 22q11.2
Quick LinksEntrez ID:27156; OMIM: 605663; Uniprot ID:RTDR1_HUMAN; ENSEMBL ID: ENSG00000100218; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
15N-linkedHMM predict
61Phosphotyrosine(SRC)HMM predict
61Phosphotyrosine(Syk)HMM predict
266Phosphotyrosine(SRC)HMM predict
286Phosphothreonine(PKC)HMM predict
291N-linkedHMM predict
324Phosphotyrosine(INSR)HMM predict
324Phosphotyrosine(Abl)HMM predict
324Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014433
  • Location:chr22 21731593-21814240
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb QuiescentGSE19898 21814221 21814398 177 69
Rb SenescentGSE19898 21814096 21814534 438 75
p130 QuiescentGSE19898 21814167 21814526 359 106
p130 SenescentGSE19898 21814067 21814538 471 62
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 21725467 21726089 622 5816
NRSF-mono JurkatQuESTdata 21725523 21725968 445 5848
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 21800709 21800909 200 0
CTCF CD4SISSRdata 21800709 21800909 200 0
CTCF HelaGSE12889 21800637 21800958 321 0
CTCF JurkatGSE12889 21800618 21800925 307 0
CTCF G2GSE9613 21742171 21742657 486 0
CTCF G2GSE9613 21798835 21799330 495 0
CTCF G2GSE9613 21800615 21801010 395 0
Fos K562GSE19551 21739822 21742679 2857 0
PHF8 293TGSE20725 21741645 21742677 1032 0
PHF8 HeLaGSE20725 21741719 21742676 957 0
hScc1 BcellGSE12603 21742317 21742915 598 0
hScc1 BcellGSE12603 21800500 21801662 1162 0
hScc1 BcellGSE12603 21813750 21814358 608 0
hScc1 CdLSGSE12603 21800500 21801313 813 0
hScc1 G2GSE9613 21800500 21801157 657 0
p130 shRbSenescentGSE19898 21813642 21814658 1016 0
Validated miRNA targets Top
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