AutismKB 2.0

Annotation Detail for TBC1D4


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Basic Information Top
Gene Symbol:TBC1D4 ( AS160,DKFZp779C0666 )
Gene Full Name: TBC1 domain family, member 4
Band: 13q22.2
Quick LinksEntrez ID:9882; OMIM: 612465; Uniprot ID:TBCD4_HUMAN; ENSEMBL ID: ENSG00000136111; HGNC ID: 19165
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
318Phosphoserine; by PKB/AKT1 (By
341Phosphoserine; by PKB/AKT1 (By
344Phosphoserine.
477N6-acetyllysine.
551Phosphoserine.
566Phosphoserine.
568Phosphothreonine.
570Phosphoserine; by PKB/AKT1 (By
588Phosphoserine; by PKB/AKT1.
591Phosphoserine.
642Phosphothreonine; by PKB/AKT1.
666Phosphoserine.
749Phosphothreonine.
751Phosphoserine; by PKB/AKT1 (By
752Phosphothreonine.
754Phosphoserine.
757Phosphoserine.
766Phosphothreonine.
Location(AA) Modifications Resource
318Phosphoserine (by PKB/AKT1) (Bysimilarity).Swiss-Prot 53.0
318PhosphoserinePhospho.ELM 6.0
341Phosphoserine (by PKB/AKT1) (Bysimilarity).Swiss-Prot 53.0
341PhosphoserinePhospho.ELM 6.0
344Phosphoserine.Swiss-Prot 53.0
344PhosphoserinePhospho.ELM 6.0
570Phosphoserine (by PKB/AKT1) (Bysimilarity).Swiss-Prot 53.0
570PhosphoserinePhospho.ELM 6.0
588PhosphoserinePhospho.ELM 6.0
588Phosphoserine (by PKB/AKT1).Swiss-Prot 53.0
591Phosphoserine.Swiss-Prot 53.0
642Phosphothreonine (PKB
642Phosphothreonine (by PKB/AKT1).Swiss-Prot 53.0
751Phosphoserine (by PKB/AKT1) (Bysimilarity).Swiss-Prot 53.0
751PhosphoserinePhospho.ELM 6.0
752PhosphothreoninePhospho.ELM 6.0
754PhosphoserinePhospho.ELM 6.0
754Phosphoserine.Swiss-Prot 53.0
757PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
23O-linkedHMM predict
51Phosphothreonine(PKA)HMM predict
66Phosphoserine(PKG)HMM predict
66Phosphoserine(PKA)HMM predict
102O-linkedHMM predict
105O-linkedHMM predict
106O-linkedHMM predict
106Phosphoserine(IKK)HMM predict
106Phosphoserine(CDC2)HMM predict
108O-linkedHMM predict
110O-linkedHMM predict
165Phosphoserine(ATM)HMM predict
178Phosphoserine(CAMK2)HMM predict
178Phosphoserine(PKG)HMM predict
290Phosphothreonine(PKC)HMM predict
318Phosphoserine(CK1)HMM predict
318Phosphoserine(IKK)HMM predict
341Phosphoserine(PKA)HMM predict
341Phosphoserine(PKB)HMM predict
354N-linkedHMM predict
389Phosphoserine(ATM)HMM predict
411Phosphoserine(ATM)HMM predict
413Phosphotyrosine(INSR)HMM predict
541N-linkedHMM predict
543O-linkedHMM predict
547N-linkedHMM predict
566Phosphoserine(IKK)HMM predict
566Phosphoserine(PKG)HMM predict
570Phosphoserine(CK1)HMM predict
583MethylarginineHMM predict
588Phosphoserine(PKA)HMM predict
588Phosphoserine(CAMK2)HMM predict
597Phosphoserine(IKK)HMM predict
597Phosphoserine(PKB)HMM predict
604Phosphotyrosine(INSR)HMM predict
604Phosphotyrosine(Jak)HMM predict
609Phosphoserine(CDC2)HMM predict
609Phosphoserine(ATM)HMM predict
613O-linkedHMM predict
613Phosphothreonine(MAPK)HMM predict
617Phosphoserine(ATM)HMM predict
617O-linkedHMM predict
620O-linkedHMM predict
621O-linkedHMM predict
631Phosphoserine(CK1)HMM predict
633PhosphoserineHMM predict
633Phosphoserine(CDK)HMM predict
644O-linkedHMM predict
648Phosphoserine(CDC2)HMM predict
650Phosphothreonine(PKC)HMM predict
679N-linkedHMM predict
691N-linkedHMM predict
692Phosphoserine(CK1)HMM predict
693Phosphoserine(CK1)HMM predict
695O-linkedHMM predict
695O-linkedHMM predict
695Phosphoserine(CK1)HMM predict
698Phosphoserine(CK1)HMM predict
701O-linkedHMM predict
702Phosphoserine(IKK)HMM predict
738Phosphoserine(CK2)HMM predict
741Phosphoserine(ATM)HMM predict
741Phosphoserine(CK1)HMM predict
749Phosphothreonine(PKA)HMM predict
751Phosphoserine(PKB)HMM predict
751Phosphoserine(IKK)HMM predict
754O-linkedHMM predict
766Phosphothreonine(MAPK)HMM predict
766Phosphothreonine(CDC2)HMM predict
771Phosphoserine(PKB)HMM predict
785N-linkedHMM predict
787Phosphoserine(CDC2)HMM predict
806Phosphoserine(CDK)HMM predict
806Phosphoserine(MAPK)HMM predict
806Phosphoserine(CDC2)HMM predict
806Phosphoserine(ATM)HMM predict
809Phosphoserine(MAPK)HMM predict
836Phosphoserine(PKG)HMM predict
1126Phosphoserine(ATM)HMM predict
1175Phosphotyrosine(INSR)HMM predict
1191Phosphotyrosine(INSR)HMM predict
1192Phosphoserine(CK1)HMM predict
1192Phosphoserine(IKK)HMM predict
1207Phosphoserine(PKG)HMM predict
1258Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014832
  • Location:chr13 74756809-74954250
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 74954261 74954662 401 211
hScc1 BcellGSE12603 74954528 74955028 500 528
hScc1 CdLSGSE12603 74953972 74955064 1092 268
p130 QuiescentGSE19898 74957214 74957415 201 3064
p130 shRbSenescentGSE19898 74954338 74954540 202 189
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 74830042 74830389 347 0
CTCF CD4SISSRdata 74830042 74830389 347 0
CTCF G2GSE9613 74807120 74807284 164 0
CTCF G2GSE9613 74834242 74834535 293 0
CTCF G2GSE9613 74844722 74844877 155 0
CTCF G2GSE9613 74882371 74882728 357 0
CTCF G2GSE9613 74889074 74889383 309 0
CTCF G2GSE9613 74952958 74954952 1994 0
ER E2-MCF7GSE14664 74797422 74797470 48 0
ER E2-MCF7GSE14664 74800289 74800338 49 0
ER E2-MCF7GSE14664 74805154 74805221 67 0
ER E2-MCF7GSE14664 74934100 74934135 35 0
ER Fulvestrant-MCF7GSE14664 74800291 74800340 49 0
ER Fulvestrant-MCF7GSE14664 74805639 74805708 69 0
ER Fulvestrant-MCF7GSE14664 74934101 74934135 34 0
FoxA1 MCF7MACSdata 74905175 74905398 223 0
H3ac HepG2E 74952570 74953228 658 0
Myc K562GSE19551 74777279 74777457 178 0
Myc K562GSE19551 74830151 74830453 302 0
Myc hESGSE17917 74952986 74953559 573 0
Oct1 H2O2-HelaGSE14283 74859792 74859819 27 0
Oct1 H2O2-HelaGSE14283 74934090 74934160 70 0
Oct1 H2O2-HelaGSE14283 74934690 74934717 27 0
Oct1 H2O2-HelaGSE14283 74950374 74950400 26 0
Oct1 HelaGSE14283 74805077 74805168 91 0
Oct1 HelaGSE14283 74934090 74934166 76 0
P300 T30-glioblastomaGSE21026 74831206 74831935 729 0
P300 T30-glioblastomaGSE21026 74837703 74838655 952 0
PHF8 HeLaGSE20725 74952780 74954947 2167 0
RNAII Tamoxifen-MCF7GSE14664 74821054 74821134 80 0
RNAII Tamoxifen-MCF7GSE14664 74863361 74863396 35 0
STAT1 IFNSISSRdata 74844980 74845700 720 0
USF1 HepG2E 74872912 74873438 526 0
hScc1 BcellGSE12603 74807120 74807362 242 0
hScc1 BcellGSE12603 74844722 74845025 303 0
hScc1 BcellGSE12603 74952855 74953543 688 0
hScc1 CdLSGSE12603 74844722 74845145 423 0
hScc1 CdLSGSE12603 74888856 74889214 358 0
hScc1 CdLSGSE12603 74952769 74953571 802 0
hScc1 G2GSE9613 74952733 74954952 2219 0
p130 shRbSenescentGSE19898 74878948 74879198 250 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