AutismKB 2.0

Annotation Detail for UPF1


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Basic Information Top
Gene Symbol:UPF1 ( FLJ43809,FLJ46894,HUPF1,KIAA0221,NORF1,RENT1,pNORF1 )
Gene Full Name: UPF1 regulator of nonsense transcripts homolog (yeast)
Band: 19p13.11
Quick LinksEntrez ID:5976; OMIM: 601430; Uniprot ID:RENT1_HUMAN; ENSEMBL ID: ENSG00000005007; HGNC ID: 9962
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1089Phosphoserine.
1090[ST]-Q motif 1.
1107Phosphoserine.
1108[ST]-Q motif 2.
1127Phosphoserine.
1129Phosphotyrosine.
Location(AA) Modifications Resource
1089Phosphoserine (Probable).Swiss-Prot 53.0
1107Phosphoserine (Probable).Swiss-Prot 53.0
1107PhosphoserinePhospho.ELM 6.0
1110PhosphoserinePhospho.ELM 6.0
1127Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
46Phosphothreonine(CDC2)HMM predict
46Phosphothreonine(MAPK)HMM predict
92Phosphoserine(IKK)HMM predict
113Phosphotyrosine(Syk)HMM predict
114SulfotyrosineHMM predict
150N-linkedHMM predict
272N-linkedHMM predict
276Phosphothreonine(PKC)HMM predict
323Phosphoserine(ATM)HMM predict
328N-linkedHMM predict
447Phosphoserine(CK1)HMM predict
475Phosphothreonine(PKA)HMM predict
510O-linkedHMM predict
512O-linkedHMM predict
599Phosphoserine(CK2)HMM predict
692Phosphoserine(ATM)HMM predict
777N-linkedHMM predict
783N-linkedHMM predict
813Phosphotyrosine(Jak)HMM predict
875Phosphothreonine(PKC)HMM predict
1019MethylarginineHMM predict
1035MethylarginineHMM predict
1049Phosphoserine(IKK)HMM predict
1061Phosphoserine(ATM)HMM predict
1069Phosphotyrosine(INSR)HMM predict
1079Phosphoserine(IKK)HMM predict
1084Phosphoserine(ATM)HMM predict
1089Phosphoserine(CK1)HMM predict
1089Phosphoserine(ATM)HMM predict
1107Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002911
  • Location:chr19 18803743-18840037
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 18803164 18804231 1067 46
p130 QuiescentGSE19898 18787655 18787782 127 16025
p130 SenescentGSE19898 18787622 18787935 313 15965
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 18819070 18819281 211 0
CTCF CD4SISSRdata 18819070 18819281 211 0
CTCF G2GSE9613 18803661 18804114 453 0
CTCF G2GSE9613 18811991 18812329 338 0
CTCF G2GSE9613 18833660 18833846 186 0
CTCF G2GSE9613 18837985 18838577 592 0
ER MCF7GSE19013 18804005 18805047 1042 0
H3ac HepG2E 18804786 18806682 1896 0
H3ac HepG2E 18811762 18813094 1332 0
Myc K562GSE19551 18838138 18838797 659 0
NFkBII GM12878GSE19485 18809968 18811448 1480 0
NFkBII GM12878GSE19485 18814578 18815875 1297 0
NFkBII GM12878GSE19485 18820764 18822551 1787 0
NFkBII GM12892GSE19485 18803192 18804595 1403 0
NFkBII GM12892GSE19485 18810052 18811488 1436 0
NFkBII GM15510GSE19485 18803172 18804371 1199 0
Nanog hESGSE18292 18806092 18806519 427 0
Oct1 HelaGSE14283 18837305 18837359 54 0
PHF8 HeLaGSE20725 18803325 18804769 1444 0
PHF8 Hs68minusFBSGSE20725 18803515 18804496 981 0
PHF8 Hs68plusFBSGSE20725 18803343 18804529 1186 0
Sox2 hESGSE18292 18806094 18806441 347 0
TFAP2C MCF7GSE21234 18835836 18836348 512 0
hScc1 BcellGSE12603 18803533 18804114 581 0
hScc1 BcellGSE12603 18838313 18838655 342 0
hScc1 CdLSGSE12603 18818876 18819548 672 0
hScc1 CdLSGSE12603 18838210 18838655 445 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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