AutismKB 2.0

Annotation Detail for APPL1


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Basic Information Top
Gene Symbol:APPL1 ( APPL,DIP13alpha )
Gene Full Name: adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
Band: 3p14.3
Quick LinksEntrez ID:26060; OMIM: 604299; Uniprot ID:DP13A_HUMAN; ENSEMBL ID: ENSG00000157500; HGNC ID: 24035
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
399Phosphothreonine.
401Phosphoserine.
691Phosphoserine.
Location(AA) Modifications Resource
401Phosphoserine (By similarity).Swiss-Prot 53.0
401PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
21Phosphoserine(IKK)HMM predict
83Phosphoserine(CK1)HMM predict
128Phosphothreonine(PKC)HMM predict
269O-linkedHMM predict
276N-linkedHMM predict
278Phosphothreonine(PKC)HMM predict
288N-linkedHMM predict
399Phosphothreonine(MAPK)HMM predict
401Phosphoserine(MAPK)HMM predict
401Phosphoserine(CDC2)HMM predict
427Phosphoserine(PKA)HMM predict
427O-linkedHMM predict
430O-linkedHMM predict
445O-linkedHMM predict
451Phosphothreonine(MAPK)HMM predict
459Phosphoserine(MAPK)HMM predict
496Phosphoserine(CK1)HMM predict
522Phosphotyrosine(Syk)HMM predict
574Phosphotyrosine(Abl)HMM predict
592Phosphoserine(PKB)HMM predict
597Phosphoserine(IKK)HMM predict
598N-linkedHMM predict
636Phosphoserine(CAMK2)HMM predict
691Phosphoserine(ATM)HMM predict
693Phosphoserine(IKK)HMM predict
693Phosphoserine(CK2)HMM predict
696Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012096
  • Location:chr3 57236893-57282535
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 57236553 57237056 503 89
FOXA1 MCF7GSE15244 57236278 57236590 312 460
Fos K562GSE19551 57236305 57237081 776 201
hScc1 G2GSE9613 57230977 57231299 322 5756
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 57253688 57253727 39 0
PHF8 293TGSE20725 57236359 57237864 1505 0
PHF8 HeLaGSE20725 57236278 57238082 1804 0
p130 SenescentGSE19898 57237472 57237732 260 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
18195 mRNA APPL chr3 57236893 57282536 168 mRNA ASB14 chr3 57277418 57288020Sense/Antisense (SA) pairs

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