AutismKB 2.0

Annotation Detail for POT1


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Basic Information Top
Gene Symbol:POT1 ( DKFZp586D211,HPOT1 )
Gene Full Name: protection of telomeres 1 homolog (S. pombe)
Band: 7q31.33
Quick LinksEntrez ID:25913; OMIM: 606478; Uniprot ID:POTE1_HUMAN; ENSEMBL ID: ENSG00000128513; HGNC ID: 17284
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
9Phosphotyrosine(Jak)HMM predict
103O-linkedHMM predict
124N-linkedHMM predict
189Phosphothreonine(MAPK)HMM predict
189Phosphothreonine(CDK)HMM predict
255N-linkedHMM predict
283Phosphoserine(CK1)HMM predict
296N-linkedHMM predict
300N-linkedHMM predict
314Phosphoserine(IKK)HMM predict
318Phosphoserine(ATM)HMM predict
342Phosphotyrosine(Syk)HMM predict
369Phosphotyrosine(Jak)HMM predict
408Phosphothreonine(MAPK)HMM predict
408Phosphothreonine(CDC2)HMM predict
415N-linkedHMM predict
527O-linkedHMM predict
611N-linkedHMM predict
614N-linkedHMM predict
618N-linkedHMM predict
624IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001042594
  • Location:chr7 124249676-124357272
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 124234968 124235006 38 14690
ER Fulvestrant-MCF7GSE14664 124234964 124234999 35 14695
Oct1 H2O2-HelaGSE14283 124240850 124240877 27 8813
Oct1 HelaGSE14283 124234965 124234999 34 14695
Oct1 HelaGSE14283 124249571 124249641 70 71
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 124267798 124267972 174 0
CTCF CD4SISSRdata 124267798 124267972 174 0
CTCF G2GSE9613 124283563 124283966 403 0
CTCF G2GSE9613 124357001 124357432 431 0
ETS1 JurkatGSE17954 124356839 124357690 851 0
NFkBII GM12892GSE19485 124345492 124346750 1258 0
Nanog ESGSE20650 124259857 124260150 293 0
Oct1 H2O2-HelaGSE14283 124345253 124345293 40 0
Oct1 HelaGSE14283 124345253 124345293 40 0
P300 T30-glioblastomaGSE21026 124356184 124357481 1297 0
Rb SenescentGSE19898 124356825 124357532 707 0
hScc1 CdLSGSE12603 124283563 124284002 439 0
hScc1 G2GSE9613 124283563 124283930 367 0
p130 SenescentGSE19898 124356879 124357598 719 0
p130 shRbQuiescentGSE19898 124356892 124357639 747 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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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