AutismKB 2.0

Annotation Detail for APLF


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Basic Information Top
Gene Symbol:APLF ( APFL,C2orf13,FLJ16593,MGC47799,PALF,Xip1 )
Gene Full Name: aprataxin and PNKP like factor
Band: 2p13.3
Quick LinksEntrez ID:200558; OMIM: 611035; Uniprot ID:APLF_HUMAN; ENSEMBL ID: ENSG00000169621; HGNC ID: 28724
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
116Phosphoserine; by ATM.
Location(AA) Modifications Resource
Location(AA) Modification Resource
70Phosphoserine(IKK)HMM predict
126N-linkedHMM predict
128Phosphothreonine(CDC2)HMM predict
131Phosphoserine(IKK)HMM predict
131Phosphoserine(CDC2)HMM predict
158O-linkedHMM predict
158Phosphothreonine(MAPK)HMM predict
199N-linkedHMM predict
227N-linkedHMM predict
244N-linkedHMM predict
245Phosphothreonine(CK2)HMM predict
245O-linkedHMM predict
251Phosphothreonine(CK2)HMM predict
311Phosphothreonine(PKC)HMM predict
314Phosphothreonine(CDK)HMM predict
314Phosphothreonine(MAPK)HMM predict
327N-linkedHMM predict
340Phosphoserine(ATM)HMM predict
343Phosphoserine(IKK)HMM predict
347Phosphoserine(PKA)HMM predict
348O-linkedHMM predict
349Phosphoserine(IKK)HMM predict
349Phosphoserine(ATM)HMM predict
349Phosphoserine(CK1)HMM predict
350N-linkedHMM predict
352Phosphoserine(IKK)HMM predict
353N-linkedHMM predict
404Phosphotyrosine(Syk)HMM predict
404Phosphotyrosine(INSR)HMM predict
462Phosphotyrosine(INSR)HMM predict
465N-linkedHMM predict
476Phosphotyrosine(SRC)HMM predict
476Phosphotyrosine(Syk)HMM predict
476Phosphotyrosine(INSR)HMM predict
476Phosphotyrosine(EGFR)HMM predict
476SulfotyrosineHMM predict
507PhenylalanineHMM predict
508PhenylalanineHMM predict
508MethionineHMM predict
509PhenylalanineHMM predict
510PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_173545
  • Location:chr2 68548245-68660796
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM15510GSE19485 68547442 68549003 1561 23
NFkBII GM18526GSE19485 68547348 68548877 1529 133
PHF8 293TGSE20725 68547355 68548794 1439 171
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 68675878 68676162 284 15224
CTCF CD4SISSRdata 68675878 68676162 284 15224
CTCF G2GSE9613 68668739 68668965 226 8056
CTCF G2GSE9613 68669749 68669906 157 9031
CTCF G2GSE9613 68675856 68676037 181 15150
ER Fulvestrant-MCF7GSE14664 68662514 68662547 33 1734
Oct1 HelaGSE14283 68670494 68670551 57 9726
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 68548011 68548661 650 0
CTCF G2GSE9613 68609777 68610987 1210 0
ER Fulvestrant-MCF7GSE14664 68564624 68564672 48 0
Fos K562GSE19551 68646433 68647004 571 0
Myc K562GSE19551 68645031 68645560 529 0
Nanog ESGSE20650 68548016 68548675 659 0
Oct1 HelaGSE14283 68559685 68559720 35 0
Oct1 HelaGSE14283 68656167 68656204 37 0
TFAP2C MCF7GSE21234 68646531 68646812 281 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