AutismKB 2.0

Annotation Detail for RUVBL1


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Basic Information Top
Gene Symbol:RUVBL1 ( ECP54,INO80H,NMP238,PONTIN,Pontin52,RVB1,TIH1,TIP49,TIP49A )
Gene Full Name: RuvB-like 1 (E. coli)
Band: 3q21.3
Quick LinksEntrez ID:8607; OMIM: 603449; Uniprot ID:RUVB1_HUMAN; ENSEMBL ID: ENSG00000175792; HGNC ID: 10474
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N6-acetyllysine.
453N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
139Phosphothreonine(MAPK)HMM predict
192Phosphotyrosine(EGFR)HMM predict
220Phosphotyrosine(EGFR)HMM predict
220Phosphotyrosine(Jak)HMM predict
411Phosphothreonine(MAPK)HMM predict
424PhosphoserineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003707
  • Location:chr3 129282492-129325331
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 129335157 129335301 144 9898
CTCF CD4SISSRdata 129335157 129335301 144 9898
CTCF HelaGSE12889 129335025 129335315 290 9839
CTCF JurkatGSE12889 129335119 129335325 206 9891
ETS1 JurkatGSE17954 129324849 129326075 1226 131
FOXA1 MCF7GSE15244 129328808 129329182 374 3664
Fos K562GSE19551 129325087 129325792 705 108
FoxA1 MCF7MACSdata 129328667 129328930 263 3467
RARG MCF7GSE15244 129325802 129326366 564 753
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 129277169 129278751 1582 4533
CTCF G2GSE9613 129281379 129281664 285 971
Fos K562GSE19551 129281780 129282292 512 457
Gata1 K562GSE18868 129278169 129278861 692 3978
Gata2 K562GSE18868 129278209 129278969 760 3904
hScc1 BcellGSE12603 129278112 129278751 639 4061
hScc1 BcellGSE12603 129281518 129281664 146 902
p130 SenescentGSE19898 129281896 129282300 404 395
p130 shRbSenescentGSE19898 129281961 129282285 324 370
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 129296760 129297011 251 0
CTCF CD4SISSRdata 129296760 129297011 251 0
CTCF G2GSE9613 129282522 129282844 322 0
CTCF G2GSE9613 129295440 129295949 509 0
CTCF G2GSE9613 129296495 129297182 687 0
CTCF G2GSE9613 129298768 129299051 283 0
CTCF G2GSE9613 129299917 129300195 278 0
CTCF G2GSE9613 129324937 129325634 697 0
ER MCF7GSE19013 129285771 129286898 1127 0
FOXA1 MCF7GSE15244 129285755 129286858 1103 0
FOXA1 MCF7GSE15244 129296284 129297253 969 0
FOXA1 MCF7GSE15244 129299411 129300082 671 0
FOXA1 MCF7GSE15244 129313900 129314384 484 0
GABP k562GSE8489 129323758 129326366 2608 0
H3K4me3 colorectalcancer 129324563 129324937 374 0
H3ac HepG2E 129324152 129325253 1101 0
Nanog hESGSE18292 129299138 129299943 805 0
Oct1 HelaGSE14283 129314430 129314505 75 0
P300 T30-glioblastomaGSE21026 129296654 129297211 557 0
PHF8 HeLaGSE20725 129324620 129325899 1279 0
RARA MCF7GSE15244 129285755 129286967 1212 0
RARA MCF7GSE15244 129313935 129314738 803 0
RARG MCF7GSE15244 129285755 129286687 932 0
STAT1 HeLaGSE12783 129313678 129314797 1119 0
hScc1 BcellGSE12603 129295879 129296010 131 0
hScc1 BcellGSE12603 129296677 129297067 390 0
hScc1 BcellGSE12603 129301969 129302327 358 0
hScc1 BcellGSE12603 129324563 129325436 873 0
hScc1 CdLSGSE12603 129296312 129297253 941 0
hScc1 G2GSE9613 129296603 129297228 625 0
p130 shRbSenescentGSE19898 129287844 129288012 168 0
p63 keratinocytesGSE17611 129296381 129297467 1086 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


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