AutismKB 2.0

Annotation Detail for AVIL


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Basic Information Top
Gene Symbol:AVIL ( ADVIL,DKFZp779O1812,DOC6,FLJ12386,MGC133244,p92 )
Gene Full Name: advillin
Band: 12q14.1
Quick LinksEntrez ID:10677; OMIM: 613397; Uniprot ID:AVIL_HUMAN; ENSEMBL ID: ENSG00000135407; HGNC ID: 14188
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
85Phosphotyrosine (By similarity).
616Phosphoserine.
758Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
53Phosphoserine(CAMK2)HMM predict
53Phosphoserine(PKA)HMM predict
56Phosphoserine(ATM)HMM predict
67Phosphoserine(CK2)HMM predict
68Phosphoserine(CK2)HMM predict
68Phosphoserine(ATM)HMM predict
68Phosphoserine(IKK)HMM predict
68PhosphoserineHMM predict
131Phosphotyrosine(SRC)HMM predict
181Phosphoserine(CK1)HMM predict
231Phosphoserine(PKG)HMM predict
301Phosphothreonine(PKC)HMM predict
301Phosphothreonine(CK2)HMM predict
449Phosphoserine(ATM)HMM predict
623N-linkedHMM predict
642N-linkedHMM predict
664N-linkedHMM predict
666Phosphothreonine(PKC)HMM predict
744N-linkedHMM predict
750N-linkedHMM predict
752N-linkedHMM predict
758Phosphotyrosine(SRC)HMM predict
784Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006576
  • Location:chr12 56477709-56496118
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 56483443 56483658 215 0
CTCF CD4SISSRdata 56483443 56483658 215 0
CTCF HelaGSE12889 56483321 56483607 286 0
CTCF G2GSE9613 56483215 56483811 596 0
CTCF G2GSE9613 56493329 56493552 223 0
ER Fulvestrant-MCF7GSE14664 56483868 56483906 38 0
FOXA1 MCF7GSE15244 56490715 56491694 979 0
FOXA1 MCF7GSE15244 56493257 56493438 181 0
FOXA1 MCF7GSE15244 56495317 56495633 316 0
Oct1 HelaGSE14283 56489795 56489825 30 0
RARG MCF7GSE15244 56490262 56491694 1432 0
Rb GrowingGSE19898 56483289 56483457 168 0
STAT1 IFNSISSRdata 56483211 56483905 694 0
hScc1 BcellGSE12603 56483251 56483577 326 0
hScc1 CdLSGSE12603 56483356 56483962 606 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
6179 EST chr12 56462836 56482896 91 mRNA AVIL chr12 56477709 56496119Sense/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


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