AutismKB 2.0

Annotation Detail for TBC1D5


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Basic Information Top
Gene Symbol:TBC1D5 ( KIAA0210 )
Gene Full Name: TBC1 domain family, member 5
Band: 3p24.3
Quick LinksEntrez ID:9779; OMIM: NA; Uniprot ID:TBCD5_HUMAN; ENSEMBL ID: ENSG00000131374; HGNC ID: 19166
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
42Phosphothreonine.
43Phosphoserine.
44Phosphoserine.
45Phosphothreonine.
522Phosphoserine.
539Phosphoserine.
541Phosphoserine.
544Phosphoserine.
554Phosphoserine.
Location(AA) Modifications Resource
43Phosphoserine.Swiss-Prot 53.0
43PhosphoserinePhospho.ELM 6.0
44Phosphoserine.Swiss-Prot 53.0
44PhosphoserinePhospho.ELM 6.0
45Phosphothreonine.Swiss-Prot 53.0
45PhosphothreoninePhospho.ELM 6.0
522Phosphoserine (By similarity).Swiss-Prot 53.0
541Phosphoserine (By similarity).Swiss-Prot 53.0
544Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
29N-linkedHMM predict
44Phosphoserine(IKK)HMM predict
44Phosphoserine(PKB)HMM predict
71Phosphothreonine(PKC)HMM predict
143Phosphoserine(ATM)HMM predict
251Phosphotyrosine(Syk)HMM predict
431PhosphotyrosineHMM predict
441N-linkedHMM predict
446N-linkedHMM predict
477O-linkedHMM predict
486N-linkedHMM predict
489O-linkedHMM predict
490Phosphoserine(CK1)HMM predict
491Phosphoserine(CK1)HMM predict
491O-linkedHMM predict
492Phosphoserine(CK1)HMM predict
492Phosphoserine(IKK)HMM predict
499O-linkedHMM predict
535N-linkedHMM predict
539Phosphoserine(CDC2)HMM predict
541Phosphoserine(CK1)HMM predict
544Phosphoserine(CK1)HMM predict
554O-linkedHMM predict
554Phosphoserine(IKK)HMM predict
554Phosphoserine(ATM)HMM predict
554Phosphoserine(CDC2)HMM predict
557Phosphoserine(CDK)HMM predict
558O-linkedHMM predict
568N-linkedHMM predict
576Phosphoserine(PKA)HMM predict
576Phosphoserine(CK1)HMM predict
584Phosphoserine(PKG)HMM predict
701O-linkedHMM predict
730Phosphoserine(IKK)HMM predict
740Phosphothreonine(PKC)HMM predict
745Phosphoserine(CK1)HMM predict
754Phosphoserine(MAPK)HMM predict
767Phosphoserine(IKK)HMM predict
769Phosphoserine(IKK)HMM predict
771Phosphoserine(IKK)HMM predict
772N-linkedHMM predict
775Phosphoserine(CK2)HMM predict
776Phosphoserine(ATM)HMM predict
781Phosphoserine(CK1)HMM predict
782Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014744
  • Location:chr3 17174902-17757402
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 17757757 17758342 585 647
H3ac HepG2E 17756991 17758570 1579 378
H3ac HepG2E 17760041 17760664 623 2950
Nanog hESGSE18292 17776513 17776873 360 19291
PHF8 HeLaGSE20725 17758440 17759886 1446 1761
PHF8 Hs68plusFBSGSE20725 17758194 17759502 1308 1446
RARA MCF7GSE15244 17757795 17758375 580 683
RARA MCF7GSE15244 17769532 17769882 350 12305
Rb QuiescentGSE19898 17759119 17759523 404 1919
TAF k562GSE8489 17756925 17758570 1645 345
TFAP2C MCF7GSE21234 17759261 17759753 492 2105
USF1 HepG2E 17757968 17759207 1239 1185
p130 SenescentGSE19898 17758831 17759730 899 1878
p130 shRbSenescentGSE19898 17759216 17759531 315 1971
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 17157369 17157984 615 17226
CTCF G2GSE9613 17160475 17160612 137 14359
CTCF G2GSE9613 17168517 17168911 394 6189
CTCF G2GSE9613 17171977 17173042 1065 2393
Oct1 H2O2-HelaGSE14283 17173724 17173759 35 1161
Oct1 HelaGSE14283 17173724 17173758 34 1162
VDR GM10861-stimGSE22484 17167789 17168992 1203 6512
hScc1 BcellGSE12603 17155329 17155942 613 19267
hScc1 BcellGSE12603 17160475 17160874 399 14228
hScc1 BcellGSE12603 17168053 17168842 789 6455
hScc1 G2GSE9613 17157369 17157984 615 17226
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 17621509 17622117 608 0
CTCF CD4GSE12889 17249947 17250153 206 0
CTCF CD4GSE12889 17275429 17275712 283 0
CTCF CD4GSE12889 17418667 17418785 118 0
CTCF CD4SISSRdata 17249947 17250153 206 0
CTCF CD4SISSRdata 17275429 17275712 283 0
CTCF CD4SISSRdata 17418667 17418785 118 0
CTCF G2GSE9613 17177408 17177948 540 0
CTCF G2GSE9613 17249777 17250209 432 0
CTCF G2GSE9613 17429494 17429639 145 0
CTCF G2GSE9613 17722528 17722677 149 0
ER Fulvestrant-MCF7GSE14664 17327267 17327309 42 0
Fos K562GSE19551 17200363 17200874 511 0
Fos K562GSE19551 17648895 17649463 568 0
H3K4me3 colorectalcancer 17757069 17757330 261 0
Jun K562GSE19551 17200408 17200860 452 0
Myc K562GSE19551 17254623 17254811 188 0
Myc K562GSE19551 17459591 17460101 510 0
Myc K562GSE19551 17709661 17710405 744 0
Nanog ESGSE20650 17563373 17563746 373 0
Nanog hESGSE18292 17563464 17563722 258 0
Oct1 H2O2-HelaGSE14283 17260125 17260155 30 0
Oct1 H2O2-HelaGSE14283 17310473 17310506 33 0
Oct1 H2O2-HelaGSE14283 17456136 17456165 29 0
Oct1 H2O2-HelaGSE14283 17660026 17660054 28 0
Oct1 H2O2-HelaGSE14283 17707607 17707662 55 0
Oct1 HelaGSE14283 17260123 17260157 34 0
Oct1 HelaGSE14283 17327269 17327332 63 0
Oct1 HelaGSE14283 17424065 17424096 31 0
Oct1 HelaGSE14283 17598409 17598439 30 0
Oct1 HelaGSE14283 17627171 17627203 32 0
Oct1 HelaGSE14283 17707608 17707666 58 0
Oct1 HelaGSE14283 17757344 17757391 47 0
P300 T30-glioblastomaGSE21026 17220472 17221101 629 0
P300 T30-glioblastomaGSE21026 17494933 17495634 701 0
P300 T30-glioblastomaGSE21026 17531739 17532528 789 0
P300 T30-glioblastomaGSE21026 17621352 17622150 798 0
RARA MCF7GSE15244 17192126 17192517 391 0
RARA MCF7GSE15244 17652177 17652363 186 0
RNAII Tamoxifen-MCF7GSE14664 17191166 17191228 62 0
TFAP2C MCF7GSE21234 17254495 17254963 468 0
USF1 HepG2E 17756991 17757514 523 0
VDR GM10855-stimGSE22484 17247805 17250611 2806 0
VDR GM10861-stimGSE22484 17248109 17250582 2473 0
hScc1 BcellGSE12603 17176092 17176394 302 0
hScc1 BcellGSE12603 17212338 17212643 305 0
hScc1 BcellGSE12603 17249777 17250135 358 0
hScc1 BcellGSE12603 17275522 17275737 215 0
hScc1 BcellGSE12603 17429350 17429849 499 0
hScc1 CdLSGSE12603 17212307 17212951 644 0
hScc1 CdLSGSE12603 17249559 17250276 717 0
hScc1 CdLSGSE12603 17275350 17275773 423 0
hScc1 CdLSGSE12603 17429386 17429920 534 0
hScc1 CdLSGSE12603 17447364 17447879 515 0
hScc1 CdLSGSE12603 17661513 17661974 461 0
hScc1 G2GSE9613 17249673 17250276 603 0
hScc1 G2GSE9613 17275450 17275773 323 0
hScc1 G2GSE9613 17428822 17429639 817 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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