AutismKB 2.0

Annotation Detail for TBX3


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Basic Information Top
Gene Symbol:TBX3 ( TBX3-ISO,UMS,XHL )
Gene Full Name: T-box 3
Band: 12q24.21
Quick LinksEntrez ID:6926; OMIM: 601621; Uniprot ID:TBX3_HUMAN; ENSEMBL ID: ENSG00000135111; HGNC ID: 11602
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
371Phosphoserine.
375Phosphoserine.
381Phosphoserine.
432Phosphoserine.
438Phosphoserine.
441Phosphothreonine.
456Phosphoserine.
707Phosphoserine.
738Phosphoserine.
740Phosphoserine.
742Phosphoserine.
Location(AA) Modifications Resource
456Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
80O-linkedHMM predict
333N-linkedHMM predict
336Phosphoserine(CK2)HMM predict
339Phosphoserine(CK2)HMM predict
340Phosphoserine(CK1)HMM predict
341Phosphoserine(CK2)HMM predict
341Phosphoserine(CK1)HMM predict
354Phosphoserine(IKK)HMM predict
354Phosphoserine(CDC2)HMM predict
358O-linkedHMM predict
381Phosphoserine(CK2)HMM predict
381Phosphoserine(CK1)HMM predict
397O-linkedHMM predict
399O-linkedHMM predict
409Phosphoserine(CDC2)HMM predict
441O-linkedHMM predict
456PhosphoserineHMM predict
456Phosphoserine(CDC2)HMM predict
523Phosphoserine(ATM)HMM predict
547Phosphoserine(IKK)HMM predict
547O-linkedHMM predict
550O-linkedHMM predict
558O-linkedHMM predict
616O-linkedHMM predict
654Phosphoserine(IKK)HMM predict
680Phosphoserine(MAPK)HMM predict
680Phosphoserine(CDC2)HMM predict
698Phosphothreonine(PKC)HMM predict
700Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005996
  • Location:chr12 113592441-113606351
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 113610839 113611046 207 4591
CTCF G2GSE9613 113621026 113621286 260 14805
CTCF G2GSE9613 113623114 113623321 207 16866
FOXA1 DLD1GSE12801 113606181 113606870 689 174
FOXA1 MCF7GSE15244 113606074 113606685 611 28
Gata2 K562GSE18868 113606318 113606914 596 265
H3K27me3 colorectalcancer 113608731 113613825 5094 4927
Rb QuiescentGSE19898 113606441 113606791 350 265
Rb SenescentGSE19898 113606523 113606893 370 357
Rb shRbSenescenceGSE19898 113606546 113606914 368 379
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 113584156 113585069 913 7829
CTCF CD4GSE12889 113584883 113585208 325 7396
CTCF CD4SISSRdata 113584883 113585208 325 7396
CTCF JurkatGSE12889 113584901 113585141 240 7421
CTCF G2GSE9613 113579044 113579229 185 13305
CTCF G2GSE9613 113584806 113585415 609 7331
CTCF G2GSE9613 113587264 113587617 353 5001
CTCF G2GSE9613 113589127 113591228 2101 2264
FOXA1 DLD1GSE12801 113578224 113579698 1474 13481
FOXA1 MCF7GSE15244 113578224 113579116 892 13772
H3ac HepG2E 113589957 113590400 443 2263
H3ac HepG2E 113591523 113592499 976 431
NRSF pAbJurkat 113589612 113589837 225 2717
STAT1 HeLaGSE12782 113584051 113585494 1443 7669
STAT1 HeLaGSE12783 113584183 113585456 1273 7622
STAT1 IFNSISSRdata 113584287 113585236 949 7680
Sox2 hESGSE18292 113579362 113579848 486 12837
TFAP2C MCF7GSE21234 113589863 113591034 1171 1993
USF2 HepG2E 113578224 113578433 209 14113
hScc1 BcellGSE12603 113584806 113585415 609 7331
hScc1 BcellGSE12603 113590775 113591021 246 1544
hScc1 CdLSGSE12603 113584806 113585520 714 7279
hScc1 CdLSGSE12603 113590104 113591021 917 1879
hScc1 G2GSE9613 113584806 113585520 714 7279
hScc1 G2GSE9613 113589402 113591887 2485 1797
p130 QuiescentGSE19898 113578468 113578652 184 13882
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 113594036 113594402 366 0
CTCF G2GSE9613 113605036 113607601 2565 0
H3ac HepG2E 113600492 113606467 5975 0
Myc hESGSE17917 113596140 113596489 349 0
NRSF pAbJurkat 113595218 113595537 319 0
RARA MCF7GSE15244 113604551 113605066 515 0
TAF HelaGSE8489 113601893 113604029 2136 0
TAF HelaGSE8489 113604376 113606619 2243 0
hScc1 G2GSE9613 113604303 113607909 3606 0
p130 QuiescentGSE19898 113606061 113606507 446 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-25 hsa-mir-25 7 21256124
hsa-miR-25* hsa-mir-25 7 21256124
hsa-miR-32 hsa-mir-32 9 21256124
hsa-miR-32* hsa-mir-32 9 21256124
hsa-miR-363 hsa-mir-363 X 21256124
hsa-miR-363* hsa-mir-363 X 21256124
hsa-miR-367 hsa-mir-367 4 21256124
hsa-miR-367* hsa-mir-367 4 21256124
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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