AutismKB 2.0

Annotation Detail for FBLIM1


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Basic Information Top
Gene Symbol:FBLIM1 ( CAL,DKFZp434G171,FBLP-1,FBLP1 )
Gene Full Name: filamin binding LIM protein 1
Band: 1p36.21
Quick LinksEntrez ID:54751; OMIM: 607747; Uniprot ID:FBLI1_HUMAN; ENSEMBL ID: ENSG00000162458; HGNC ID: 24686
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
61O-linkedHMM predict
72Phosphothreonine(PKC)HMM predict
139Phosphoserine(ATM)HMM predict
139Phosphoserine(CDK)HMM predict
139O-linkedHMM predict
139Phosphoserine(CDC2)HMM predict
153O-linkedHMM predict
211S-palmitoylHMM predict
224Phosphotyrosine(Syk)HMM predict
296Phosphotyrosine(Syk)HMM predict
363S-palmitoylHMM predict
368Phosphoserine(PKA)HMM predict
373S-farnesylHMM predict
373CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001024215
  • Location:chr1 15963580-15974301
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 15964837 15965088 251 0
CTCF G2GSE9613 15969343 15969639 296 0
CTCF G2GSE9613 15971501 15971728 227 0
Fos K562GSE19551 15964977 15965324 347 0
hScc1 BcellGSE12603 15964768 15965088 320 0
p130 QuiescentGSE19898 15969816 15969965 149 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-133a hsa-mir-133a-1 18 18711016
hsa-miR-133a hsa-mir-133a-2 20 18711016
hsa-miR-133b hsa-mir-133b 6 18711016
No data
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