AutismKB 2.0

Annotation Detail for FTL


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Basic Information Top
Gene Symbol:FTL ( MGC71996,NBIA3 )
Gene Full Name: ferritin, light polypeptide
Band: 19q13.33
Quick LinksEntrez ID:2512; OMIM: 134790; Uniprot ID:FRIL_HUMAN; ENSEMBL ID: ENSG00000087086; HGNC ID: 3999
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine.
98N6-acetyllysine.
Location(AA) Modifications Resource
2N-acetylserine.Swiss-Prot 53.0
Location(AA) Modification Resource
171Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000146
  • Location:chr19 54160377-54161946
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 54159726 54160616 890 207
H3K4me2 HCT116GSE10453 54159229 54159866 637 830
Rb GrowingGSE19898 54159111 54159280 169 1182
Rb GrowingGSE19898 54159358 54159503 145 947
Rb QuiescentGSE19898 54158808 54159162 354 1393
Rb SenescentGSE19898 54158764 54159220 456 1386
Rb shRbSenescenceGSE19898 54158872 54159192 320 1346
TAF k562GSE8489 54159259 54159866 607 815
USF1 HepG2E 54159229 54160236 1007 645
USF2 HepG2E 54159229 54160174 945 676
VDR GM10855-UnstimGSE22484 54155612 54163739 8127 702
VDR GM10861-UnstimGSE22484 54154786 54163537 8751 1216
VDR GM10861-stimGSE22484 54155544 54164071 8527 570
p130 QuiescentGSE19898 54158868 54159289 421 1299
p130 SenescentGSE19898 54158855 54159404 549 1248
p130 shRbQuiescentGSE19898 54158785 54159456 671 1257
p130 shRbSenescentGSE19898 54158652 54159403 751 1350
p130 shRbSenescentGSE19898 54160123 54160466 343 83
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Pol2 GM12878GSE19551 54160017 54163916 3899 20
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 54159967 54161541 1574 0
H3ac HepG2E 54159155 54162081 2926 0
PHF8 293TGSE20725 54160254 54161347 1093 0
PolII HeLaGSE12783 54155625 54166372 10747 0
TAF k562GSE8489 54160848 54162081 1233 0
hScc1 BcellGSE12603 54159927 54160961 1034 0
p130 QuiescentGSE19898 54160650 54160881 231 0
p130 shRbQuiescentGSE19898 54160220 54161062 842 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