AutismKB 2.0

Annotation Detail for TBC1D1


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Basic Information Top
Gene Symbol:TBC1D1 ( KIAA1108,TBC,TBC1 )
Gene Full Name: TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
Band: 4p14
Quick LinksEntrez ID:23216; OMIM: 609850; Uniprot ID:TBCD1_HUMAN; ENSEMBL ID: ENSG00000065882; HGNC ID: 11578
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
113Phosphotyrosine.
507Phosphoserine.
565Phosphoserine.
570Phosphoserine.
585Phosphoserine.
627Phosphoserine.
Location(AA) Modifications Resource
113Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
51Phosphoserine(PKA)HMM predict
55Phosphothreonine(PKC)HMM predict
69Phosphoserine(CDC2)HMM predict
69Phosphoserine(CDK)HMM predict
82Phosphoserine(ATM)HMM predict
182Phosphothreonine(PKA)HMM predict
211Phosphoserine(CDC2)HMM predict
211Phosphoserine(CDK)HMM predict
237Phosphoserine(ATM)HMM predict
248MethyllysineHMM predict
288N-linkedHMM predict
304Phosphoserine(MAPK)HMM predict
406N-linkedHMM predict
503Phosphoserine(IKK)HMM predict
503Phosphoserine(PKG)HMM predict
507Phosphoserine(CK1)HMM predict
532O-linkedHMM predict
533Phosphoserine(CK1)HMM predict
535Phosphoserine(CK1)HMM predict
535Phosphoserine(CK2)HMM predict
537O-linkedHMM predict
539Phosphoserine(IKK)HMM predict
540N-linkedHMM predict
541O-linkedHMM predict
542O-linkedHMM predict
570Phosphoserine(CK2)HMM predict
571Phosphoserine(ATM)HMM predict
571Phosphoserine(CK2)HMM predict
571Phosphoserine(CK1)HMM predict
573Phosphoserine(CK1)HMM predict
614O-linkedHMM predict
632Phosphothreonine(MAPK)HMM predict
652Phosphothreonine(CDC2)HMM predict
652Phosphothreonine(CDK)HMM predict
656Phosphothreonine(PKC)HMM predict
660Phosphoserine(PKA)HMM predict
660Phosphoserine(PKA)HMM predict
660Phosphoserine(CAMK2)HMM predict
660Phosphoserine(IKK)HMM predict
682Phosphotyrosine(Syk)HMM predict
695Phosphoserine(CDC2)HMM predict
716Phosphothreonine(PKC)HMM predict
717Phosphoserine(PKA)HMM predict
780Phosphothreonine(MAPK)HMM predict
843Phosphoserine(ATM)HMM predict
952SulfotyrosineHMM predict
1087N-linkedHMM predict
1120Phosphoserine(CK1)HMM predict
1120Phosphoserine(CK2)HMM predict
1123Phosphoserine(CK1)HMM predict
1150Phosphoserine(PKA)HMM predict
1150Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015173
  • Location:chr4 37569114-37817187
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 37560226 37561040 814 8482
CTCF G2GSE9613 37563102 37563324 222 5902
ER Fulvestrant-MCF7GSE14664 37560126 37560159 33 8972
Oct1 HelaGSE14283 37560129 37560160 31 8970
Rb GrowingGSE19898 37568066 37568257 191 953
Rb GrowingGSE19898 37568451 37568651 200 564
hScc1 BcellGSE12603 37567839 37570015 2176 188
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 37820059 37820384 325 3034
CTCF G2GSE9613 37827553 37827707 154 10443
CTCF G2GSE9613 37833557 37833803 246 16493
CTCF G2GSE9613 37834397 37834717 320 17370
hScc1 BcellGSE12603 37820059 37820313 254 2999
hScc1 BcellGSE12603 37827553 37827881 328 10530
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 37623530 37623736 206 0
CTCF CD4GSE12889 37648855 37649133 278 0
CTCF CD4GSE12889 37655833 37656158 325 0
CTCF CD4GSE12889 37740114 37740295 181 0
CTCF CD4SISSRdata 37648855 37649133 278 0
CTCF CD4SISSRdata 37655833 37656158 325 0
CTCF CD4SISSRdata 37740114 37740295 181 0
CTCF HelaGSE12889 37740102 37740315 213 0
CTCF JurkatGSE12889 37648866 37649063 197 0
CTCF JurkatGSE12889 37740111 37740429 318 0
CTCF G2GSE9613 37568543 37569710 1167 0
CTCF G2GSE9613 37612120 37612546 426 0
CTCF G2GSE9613 37642429 37642916 487 0
CTCF G2GSE9613 37648838 37649226 388 0
CTCF G2GSE9613 37655183 37656327 1144 0
CTCF G2GSE9613 37670100 37670446 346 0
CTCF G2GSE9613 37673653 37673869 216 0
CTCF G2GSE9613 37676352 37676826 474 0
CTCF G2GSE9613 37713405 37713654 249 0
CTCF G2GSE9613 37727556 37727929 373 0
CTCF G2GSE9613 37733525 37734019 494 0
CTCF G2GSE9613 37735052 37735392 340 0
CTCF G2GSE9613 37739962 37740553 591 0
CTCF G2GSE9613 37742338 37742613 275 0
CTCF G2GSE9613 37749782 37750161 379 0
CTCF G2GSE9613 37751758 37752001 243 0
CTCF G2GSE9613 37759241 37759372 131 0
CTCF G2GSE9613 37782347 37782668 321 0
CTCF G2GSE9613 37784234 37785141 907 0
CTCF G2GSE9613 37806530 37806913 383 0
CTCF G2GSE9613 37815047 37815432 385 0
ER MCF7GSE19013 37569513 37570084 571 0
ER MCF7GSE19013 37672513 37673164 651 0
ER MCF7GSE19013 37719109 37719901 792 0
FoxA1 MCF7MACSdata 37753745 37753894 149 0
FoxA1 MCF7MACSdata 37788017 37788228 211 0
Myc K562GSE19551 37747188 37747569 381 0
NFkBII GM12878GSE19485 37805914 37808247 2333 0
Nanog ESGSE20650 37579410 37579738 328 0
Nanog hESGSE18292 37765313 37765625 312 0
Nanog hESGSE18292 37792457 37792970 513 0
Oct1 H2O2-HelaGSE14283 37626098 37626126 28 0
Oct1 H2O2-HelaGSE14283 37766105 37766156 51 0
Oct1 HelaGSE14283 37766105 37766156 51 0
Oct1 HelaGSE14283 37813381 37813416 35 0
Oct4 hESGSE21916 37765180 37765642 462 0
P300 T0-glioblastomaGSE21026 37769436 37770342 906 0
P300 T0-glioblastomaGSE21026 37797656 37798599 943 0
P300 T30-glioblastomaGSE21026 37756850 37757581 731 0
P300 T30-glioblastomaGSE21026 37797401 37798579 1178 0
P300 T30-glioblastomaGSE21026 37809903 37810781 878 0
RARA MCF7GSE15244 37644228 37644450 222 0
Rb SenescentGSE19898 37655103 37655311 208 0
Rb shRbSenescenceGSE19898 37655098 37655262 164 0
Sox2 hESGSE18292 37765294 37765515 221 0
TFAP2C MCF7GSE21234 37643900 37644358 458 0
TFAP2C MCF7GSE21234 37659422 37659934 512 0
TFAP2C MCF7GSE21234 37797722 37798122 400 0
USF1 HepG2E 37629821 37630245 424 0
USF2 HepG2E 37810899 37812139 1240 0
hScc1 BcellGSE12603 37592574 37592938 364 0
hScc1 BcellGSE12603 37676316 37676640 324 0
hScc1 BcellGSE12603 37713247 37713593 346 0
hScc1 BcellGSE12603 37735084 37735309 225 0
hScc1 BcellGSE12603 37739926 37740630 704 0
hScc1 BcellGSE12603 37759133 37759409 276 0
hScc1 BcellGSE12603 37784522 37785141 619 0
hScc1 BcellGSE12603 37806670 37807585 915 0
hScc1 BcellGSE12603 37814813 37815432 619 0
hScc1 CdLSGSE12603 37713216 37713761 545 0
hScc1 CdLSGSE12603 37739889 37740630 741 0
hScc1 G2GSE9613 37739926 37740630 704 0
p130 SenescentGSE19898 37586490 37586642 152 0
p130 SenescentGSE19898 37655053 37655372 319 0
p130 SenescentGSE19898 37656146 37656536 390 0
p63 keratinocytesGSE17611 37806558 37807767 1209 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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