AutismKB 2.0

Annotation Detail for TFEB


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Basic Information Top
Gene Symbol:TFEB ( ALPHATFEB,BHLHE35,TCFEB )
Gene Full Name: transcription factor EB
Band: 6p21.1
Quick LinksEntrez ID:7942; OMIM: 600744; Uniprot ID:TFEB_HUMAN; ENSEMBL ID: ENSG00000112561; HGNC ID: 11753
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
109Phosphoserine.
114Phosphoserine.
122Phosphoserine.
133Phosphoserine.
134Phosphoserine.
138Phosphoserine.
142Phosphoserine.
467Phosphoserine.
Location(AA) Modifications Resource
467Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
55Phosphothreonine(MAPK)HMM predict
78N-linkedHMM predict
87Phosphoserine(ATM)HMM predict
114Phosphoserine(IKK)HMM predict
114Phosphoserine(CDK)HMM predict
114O-linkedHMM predict
122Phosphoserine(CDC2)HMM predict
142PhosphoserineHMM predict
142Phosphoserine(IKK)HMM predict
173Phosphotyrosine(INSR)HMM predict
208O-linkedHMM predict
300N-linkedHMM predict
332Phosphoserine(CDC2)HMM predict
332Phosphoserine(CDK)HMM predict
332O-linkedHMM predict
352Phosphoserine(CK1)HMM predict
385O-linkedHMM predict
389Phosphoserine(ATM)HMM predict
389Phosphoserine(CDK)HMM predict
413Phosphotyrosine(EGFR)HMM predict
423Phosphoserine(CDC2)HMM predict
455Phosphoserine(IKK)HMM predict
455Phosphoserine(MAPK)HMM predict
467Phosphoserine(CAMK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007162
  • Location:chr6 41759694-41810775
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 41811232 41811549 317 615
CTCF CD4SISSRdata 41811232 41811549 317 615
CTCF G2GSE9613 41810443 41811664 1221 278
ETS1 JurkatGSE17954 41810948 41811969 1021 683
Myc hESGSE17917 41810829 41811055 226 167
P300 T30-glioblastomaGSE21026 41810803 41811881 1078 567
hScc1 BcellGSE12603 41811027 41811479 452 478
hScc1 G2GSE9613 41810933 41811521 588 452
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 41759344 41759679 335 183
CTCF CD4SISSRdata 41759344 41759679 335 183
CTCF G2GSE9613 41753073 41753726 653 6295
CTCF G2GSE9613 41754331 41754997 666 5031
CTCF G2GSE9613 41757738 41758514 776 1569
CTCF G2GSE9613 41758852 41759738 886 400
Rb GrowingGSE19898 41758846 41759037 191 753
TFAP2C MCF7GSE21234 41757863 41758392 529 1567
VDR GM10861-stimGSE22484 41757448 41760277 2829 832
hScc1 BcellGSE12603 41757738 41758242 504 1705
hScc1 BcellGSE12603 41758738 41759961 1223 345
hScc1 CdLSGSE12603 41757703 41758514 811 1586
hScc1 CdLSGSE12603 41759206 41759889 683 147
hScc1 G2GSE9613 41754331 41755250 919 4904
hScc1 G2GSE9613 41757703 41758514 811 1586
hScc1 G2GSE9613 41758890 41759738 848 381
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 41781589 41781889 300 0
CTCF CD4SISSRdata 41781589 41781889 300 0
CTCF G2GSE9613 41760450 41760900 450 0
CTCF G2GSE9613 41761696 41762130 434 0
CTCF G2GSE9613 41764716 41765064 348 0
CTCF G2GSE9613 41768772 41769668 896 0
CTCF G2GSE9613 41771521 41771886 365 0
CTCF G2GSE9613 41774935 41775146 211 0
CTCF G2GSE9613 41776219 41776468 249 0
CTCF G2GSE9613 41776815 41777229 414 0
CTCF G2GSE9613 41780187 41782636 2449 0
CTCF G2GSE9613 41782963 41783757 794 0
CTCF G2GSE9613 41788869 41789777 908 0
CTCF G2GSE9613 41790402 41790927 525 0
CTCF G2GSE9613 41792071 41792767 696 0
CTCF G2GSE9613 41798761 41798938 177 0
CTCF G2GSE9613 41804316 41804806 490 0
CTCF G2GSE9613 41807432 41807723 291 0
CTCF G2GSE9613 41809702 41810100 398 0
H3ac HepG2E 41770684 41771087 403 0
H3ac HepG2E 41799197 41799883 686 0
H3ac HepG2E 41801061 41801307 246 0
H3ac HepG2E 41804758 41805354 596 0
H3ac HepG2E 41808172 41808783 611 0
NFkBII GM10847GSE19485 41780409 41783963 3554 0
NFkBII GM12878GSE19485 41780592 41783783 3191 0
NFkBII GM15510GSE19485 41780226 41784237 4011 0
NFkBII GM15510GSE19485 41807985 41811829 3844 0
NFkBII GM18505GSE19485 41807906 41810450 2544 0
NFkBII GM18526GSE19485 41780276 41784787 4511 0
P300 T30-glioblastomaGSE21026 41799099 41799699 600 0
Rb QuiescentGSE19898 41780837 41780983 146 0
TFAP2C MCF7GSE21234 41788606 41789682 1076 0
TFAP2C MCF7GSE21234 41799253 41799523 270 0
VDR GM10855-stimGSE22484 41779805 41784075 4270 0
hScc1 BcellGSE12603 41761952 41762195 243 0
hScc1 BcellGSE12603 41769224 41769411 187 0
hScc1 BcellGSE12603 41778970 41779174 204 0
hScc1 BcellGSE12603 41780635 41781248 613 0
hScc1 BcellGSE12603 41781567 41782400 833 0
hScc1 BcellGSE12603 41789332 41789777 445 0
hScc1 BcellGSE12603 41792362 41792733 371 0
hScc1 BcellGSE12603 41796144 41796820 676 0
hScc1 BcellGSE12603 41799263 41799751 488 0
hScc1 BcellGSE12603 41808501 41810070 1569 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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