AutismKB 2.0

Annotation Detail for FBLN5


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Basic Information Top
Gene Symbol:FBLN5 ( ARMD3,DANCE,EVEC,FIBL-5,FLJ90059,UP50 )
Gene Full Name: fibulin 5
Band: 14q32.12
Quick LinksEntrez ID:10516; OMIM: 604580; Uniprot ID:FBLN5_HUMAN; ENSEMBL ID: ENSG00000140092; HGNC ID: 3602
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
56Cell attachment site (Potential).
283N-linked (GlcNAc...) (Potential).
296N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
283N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
296N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
19Phosphoserine(CDC2)HMM predict
66Phosphotyrosine(Jak)HMM predict
80Phosphotyrosine(INSR)HMM predict
84Phosphotyrosine(Syk)HMM predict
84Phosphotyrosine(INSR)HMM predict
88Phosphotyrosine(Syk)HMM predict
88Phosphotyrosine(Jak)HMM predict
89O-linkedHMM predict
139N-linkedHMM predict
283N-linkedHMM predict
296N-linkedHMM predict
300N-linkedHMM predict
444Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006329
  • Location:chr14 91405508-91483787
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 91486167 91486288 121 2440
ER E2-MCF7GSE14664 91486556 91486596 40 2789
TAF HelaGSE8489 91493269 91493505 236 9600
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 91393875 91394021 146 11561
hScc1 BcellGSE12603 91394643 91395138 495 10618
hScc1 CdLSGSE12603 91394575 91395102 527 10670
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 91447732 91447963 231 0
CTCF CD4SISSRdata 91447732 91447963 231 0
CTCF G2GSE9613 91415367 91415676 309 0
CTCF G2GSE9613 91464124 91464332 208 0
FoxA1 MCF7MACSdata 91442563 91442831 268 0
H3K27me3 colorectalcancer 91481357 91483346 1989 0
KLF4 hESGSE17917 91475645 91475801 156 0
NFkBII GM12878GSE19485 91418922 91420181 1259 0
Nanog hESGSE18292 91433471 91433647 176 0
Oct1 H2O2-HelaGSE14283 91456271 91456299 28 0
P300 T30-glioblastomaGSE21026 91433264 91433943 679 0
RARA MCF7GSE15244 91408377 91409204 827 0
RARA MCF7GSE15244 91411828 91412405 577 0
RARG MCF7GSE15244 91411975 91412405 430 0
RARG MCF7GSE15244 91468241 91468719 478 0
Sox2 hESGSE18292 91431373 91431644 271 0
Sox2 hESGSE18292 91447836 91448089 253 0
TFAP2C MCF7GSE21234 91429672 91430112 440 0
VDR GM10861-stimGSE22484 91407684 91410873 3189 0
hScc1 BcellGSE12603 91423285 91423501 216 0
hScc1 BcellGSE12603 91429166 91429468 302 0
hScc1 BcellGSE12603 91447818 91447948 130 0
hScc1 BcellGSE12603 91461847 91462332 485 0
hScc1 CdLSGSE12603 91428879 91429430 551 0
hScc1 CdLSGSE12603 91447818 91447981 163 0
Validated miRNA targets Top
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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