AutismKB 2.0

Annotation Detail for FBLN1


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Basic Information Top
Gene Symbol:FBLN1 ( FBLN,FIBL1 )
Gene Full Name: fibulin 1
Band: 22q13.31
Quick LinksEntrez ID:2192; OMIM: 135820; Uniprot ID:FBLN1_HUMAN; ENSEMBL ID: ENSG00000077942; HGNC ID: 3600
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
98N-linked (GlcNAc...) (Potential).
535N-linked (GlcNAc...) (Potential).
539N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
98N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
535N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
539N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
113S-palmitoylHMM predict
144S-palmitoylHMM predict
193Phosphothreonine(CK2)HMM predict
376Phosphoserine(MAPK)HMM predict
448Phosphoserine(IKK)HMM predict
451Phosphoserine(ATM)HMM predict
539N-linkedHMM predict
544N-linkedHMM predict
574Phosphothreonine(PKC)HMM predict
599O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001996
  • Location:chr22 44277382-44337904
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 44337051 44337562 511 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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