AutismKB 2.0

Annotation Detail for PUF60


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Basic Information Top
Gene Symbol:PUF60 ( FIR,FLJ31379,RoBPI,SIAHBP1 )
Gene Full Name: poly-U binding splicing factor 60KDa
Band: 8q24.3
Quick LinksEntrez ID:22827; OMIM: 604819; Uniprot ID:PUF60_HUMAN; ENSEMBL ID: ENSG00000179950; HGNC ID: 17042
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
60Phosphothreonine.
206Phosphoserine.
251N6-acetyllysine.
454N6-acetyllysine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014281
  • Location:chr8 144970536-144983524
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 144984166 144984587 421 852
P300 T30-glioblastomaGSE21026 144982694 144984388 1694 17
PHF8 Hs68minusFBSGSE20725 144982967 144984253 1286 86
Rb SenescentGSE19898 144983347 144983943 596 121
Rb shRbSenescenceGSE19898 144983579 144983785 206 158
VDR GM10861-UnstimGSE22484 144982877 144984191 1314 10
p130 SenescentGSE19898 144983241 144984137 896 165
p130 shRbQuiescentGSE19898 144983262 144984104 842 159
p130 shRbSenescentGSE19898 144983306 144984142 836 200
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF pAbJurkat 144969705 144970601 896 384
P300 T30-glioblastomaGSE21026 144969648 144970587 939 419
VDR GM10855-UnstimGSE22484 144969263 144970980 1717 415
VDR GM10855-stimGSE22484 144969515 144970758 1243 400
VDR GM10861-UnstimGSE22484 144969153 144971502 2349 209
VDR GM10861-stimGSE22484 144969412 144971073 1661 294
p130 SenescentGSE19898 144969967 144970319 352 394
p130 shRbSenescentGSE19898 144969886 144970238 352 475
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 144982683 144984126 1443 0
FOXA1 MCF7GSE15244 144978906 144979453 547 0
GABP k562GSE8489 144981023 144983029 2006 0
H3K4me3 colorectalcancer 144982387 144982668 281 0
H3ac HepG2E 144977201 144977677 476 0
H3ac HepG2E 144979110 144980436 1326 0
H3ac HepG2E 144981169 144982963 1794 0
NRSF pAbJurkat 144971717 144972170 453 0
NRSF pAbJurkat 144972715 144973417 702 0
NRSF pAbJurkat 144974170 144974532 362 0
NRSF pAbJurkat 144976033 144976350 317 0
NRSF pAbJurkat 144976760 144978906 2146 0
PHF8 HeLaGSE20725 144982203 144984467 2264 0
PHF8 Hs68plusFBSGSE20725 144982736 144984109 1373 0
TAF HelaGSE8489 144981023 144982387 1364 0
TFAP2C MCF7GSE21234 144977502 144979207 1705 0
VDR GM10861-stimGSE22484 144982801 144984212 1411 0
hScc1 CdLSGSE12603 144983029 144983495 466 0
p130 QuiescentGSE19898 144982739 144982991 252 0
p130 QuiescentGSE19898 144983299 144983631 332 0
p130 shRbQuiescentGSE19898 144982644 144983158 514 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