AutismKB 2.0

Annotation Detail for TFE3


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Basic Information Top
Gene Symbol:TFE3 ( RCCP2,TFEA,bHLHe33 )
Gene Full Name: transcription factor binding to IGHM enhancer 3
Band: Xp11.23
Quick LinksEntrez ID:7030; OMIM: 314310; Uniprot ID:TFE3_HUMAN; ENSEMBL ID: ENSG00000068323; HGNC ID: 11752
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
556Phosphoserine.
568Phosphoserine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
42Phosphoserine(MAPK)HMM predict
85O-linkedHMM predict
88Phosphothreonine(MAPK)HMM predict
91O-linkedHMM predict
93Phosphoserine(IKK)HMM predict
96O-linkedHMM predict
103Phosphothreonine(MAPK)HMM predict
110Phosphoserine(CK1)HMM predict
144Phosphoserine(CDK)HMM predict
144Phosphoserine(CDC2)HMM predict
144O-linkedHMM predict
149Phosphoserine(MAPK)HMM predict
149Phosphoserine(CDC2)HMM predict
149Phosphoserine(IKK)HMM predict
153O-linkedHMM predict
165O-linkedHMM predict
185N-linkedHMM predict
217Phosphothreonine(MAPK)HMM predict
224O-linkedHMM predict
240O-linkedHMM predict
242O-linkedHMM predict
246Phosphoserine(MAPK)HMM predict
257Phosphoserine(CK2)HMM predict
270Phosphoserine(CK1)HMM predict
275Phosphotyrosine(Syk)HMM predict
294O-linkedHMM predict
308Phosphoserine(ATM)HMM predict
313O-linkedHMM predict
317O-linkedHMM predict
334Phosphoserine(CK1)HMM predict
334Phosphoserine(PKG)HMM predict
415Phosphoserine(PKG)HMM predict
415Phosphoserine(CK1)HMM predict
444Phosphothreonine(MAPK)HMM predict
444Phosphothreonine(CDK)HMM predict
449O-linkedHMM predict
452O-linkedHMM predict
453O-linkedHMM predict
455O-linkedHMM predict
542Phosphoserine(CDC2)HMM predict
556Phosphoserine(IKK)HMM predict
559Phosphoserine(MAPK)HMM predict
559Phosphoserine(CDC2)HMM predict
664Phosphoserine(ATM)HMM predict
723Phosphothreonine(PKC)HMM predict
727Phosphoserine(CK1)HMM predict
728Phosphoserine(CK1)HMM predict
733O-linkedHMM predict
733Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006521
  • Location:chrX 48771185-48787933
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 48788206 48788464 258 402
CTCF CD4SISSRdata 48788206 48788464 258 402
CTCF G2GSE9613 48787410 48789165 1755 354
NFkBII GM10847GSE19485 48787237 48788776 1539 73
NFkBII GM15510GSE19485 48787308 48788665 1357 53
hScc1 BcellGSE12603 48787147 48788902 1755 91
hScc1 CdLSGSE12603 48787515 48789098 1583 373
hScc1 G2GSE9613 48787547 48788653 1106 167
p130 SenescentGSE19898 48787851 48788046 195 15
p130 shRbQuiescentGSE19898 48787772 48788125 353 15
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48773944 48774817 873 0
CTCF G2GSE9613 48778585 48778868 283 0
CTCF G2GSE9613 48783131 48783762 631 0
CTCF G2GSE9613 48786362 48786639 277 0
ER E2-MCF7GSE14664 48778592 48778641 49 0
H3K4me2 HCT116GSE10453 48785717 48786395 678 0
H3ac HepG2E 48785717 48787456 1739 0
Oct4 ESGSE20650 48784486 48784849 363 0
Oct4 hESGSE21916 48784289 48784980 691 0
PHF8 293TGSE20725 48787332 48787979 647 0
TAF k562GSE8489 48786724 48787410 686 0
hScc1 G2GSE9613 48774014 48774937 923 0
hScc1 G2GSE9613 48782640 48782876 236 0
hScc1 G2GSE9613 48783440 48783797 357 0
hScc1 G2GSE9613 48786362 48787114 752 0
p130 shRbQuiescentGSE19898 48786993 48787524 531 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-192 hsa-mir-192 11 21389977
hsa-miR-192* hsa-mir-192 11 21389977
hsa-miR-200b hsa-mir-200b 1 21389977
hsa-miR-200b* hsa-mir-200b 1 21389977
hsa-miR-200c hsa-mir-200c 12 21389977
hsa-miR-200c* hsa-mir-200c 12 21389977
hsa-miR-216a hsa-mir-216a 2 20713358
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


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