AutismKB 2.0

Annotation Detail for TWF1


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Basic Information Top
Gene Symbol:TWF1 ( A6,MGC23788,MGC41876,PTK9 )
Gene Full Name: twinfilin, actin-binding protein, homolog 1 (Drosophila)
Band: 12q12
Quick LinksEntrez ID:5756; OMIM: 610932; Uniprot ID:TWF1_HUMAN; ENSEMBL ID: ENSG00000151239; HGNC ID: 9620
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine.
143Phosphoserine.
309Phosphotyrosine.
349Phosphothreonine.
Location(AA) Modifications Resource
327Phosphotyrosine.Swiss-Prot 53.0
327PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
28Phosphoserine(CAMK2)HMM predict
61Phosphoserine(ATM)HMM predict
93Phosphoserine(IKK)HMM predict
125Phosphothreonine(PKC)HMM predict
158Phosphoserine(ATM)HMM predict
234N-linkedHMM predict
237N-linkedHMM predict
262PhosphoserineHMM predict
267Phosphotyrosine(EGFR)HMM predict
327Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
No data
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
149 Unknown MicroArray miR-1 PTK9 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000151239 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "epithelium, squamous cell, lymphoblast, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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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