AutismKB 2.0

Annotation Detail for TGFBI


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TGFBI ( BIGH3,CDB1,CDG2,CDGG1,CSD,CSD1,CSD2,CSD3,EBMD,LCD1 )
Gene Full Name: transforming growth factor, beta-induced, 68kDa
Band: 5q31.1
Quick LinksEntrez ID:7045; OMIM: 601692; Uniprot ID:BGH3_HUMAN; ENSEMBL ID: ENSG00000120708; HGNC ID: 11771
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1084-carboxyglutamate (Potential).
1264-carboxyglutamate (Potential).
1314-carboxyglutamate (Potential).
1334-carboxyglutamate (Potential).
1464-carboxyglutamate (Potential).
1544-carboxyglutamate (Potential).
1664-carboxyglutamate (Potential).
1844-carboxyglutamate (Potential).
2484-carboxyglutamate (Potential).
2504-carboxyglutamate (Potential).
2544-carboxyglutamate (Potential).
2704-carboxyglutamate (Potential).
2834-carboxyglutamate (Potential).
2864-carboxyglutamate (Potential).
2914-carboxyglutamate (Potential).
3014-carboxyglutamate (Potential).
3194-carboxyglutamate (Potential).
3284-carboxyglutamate (Potential).
3314-carboxyglutamate (Potential).
3364-carboxyglutamate (Potential).
5294-carboxyglutamate (Potential).
5344-carboxyglutamate (Potential).
5454-carboxyglutamate (Potential).
5544-carboxyglutamate (Potential).
5644-carboxyglutamate (Potential).
5764-carboxyglutamate (Potential).
5984-carboxyglutamate (Potential).
6114-carboxyglutamate (Potential).
6154-carboxyglutamate (Potential).
644Cell attachment site (Potential).
Location(AA) Modifications Resource
Location(AA) Modification Resource
158Phosphoserine(IKK)HMM predict
537Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000358
  • Location:chr5 135392596-135427404
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 135392208 135392807 599 89
ER E2-MCF7GSE14664 135386709 135386766 57 5859
Oct1 H2O2-HelaGSE14283 135392430 135392461 31 151
Oct1 HelaGSE14283 135384161 135384192 31 8420
Oct1 HelaGSE14283 135389514 135389552 38 3064
Oct1 HelaGSE14283 135392398 135392461 63 167
TFAP2C MCF7GSE21234 135391699 135392255 556 620
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 135446096 135446340 244 18814
CTCF CD4SISSRdata 135446096 135446340 244 18814
CTCF G2GSE9613 135427948 135428353 405 746
CTCF G2GSE9613 135443006 135443159 153 15678
CTCF G2GSE9613 135445974 135446470 496 18818
ER Fulvestrant-MCF7GSE14664 135431890 135431921 31 4501
Myc K562GSE19551 135443904 135444475 571 16785
Oct1 HelaGSE14283 135429826 135429862 36 2440
PHF8 Hs68plusFBSGSE20725 135443793 135444694 901 16839
Pol3 K562GSE19551 135443640 135444586 946 16709
Rb GrowingGSE19898 135444181 135444406 225 16889
Rb QuiescentGSE19898 135444164 135444465 301 16910
Rb SenescentGSE19898 135444089 135444777 688 17029
Rb shRbSenescenceGSE19898 135444108 135444534 426 16917
TFAP2C MCF7GSE21234 135430284 135430953 669 3214
hScc1 BcellGSE12603 135445974 135446470 496 18818
hScc1 CdLSGSE12603 135445974 135446506 532 18836
hScc1 G2GSE9613 135445974 135446575 601 18870
p130 QuiescentGSE19898 135444149 135444576 427 16958
p130 SenescentGSE19898 135444089 135444512 423 16896
p130 SenescentGSE19898 135444535 135444726 191 17226
p130 shRbQuiescentGSE19898 135444297 135444649 352 17069
p130 shRbSenescentGSE19898 135444152 135444656 504 17000
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 135426269 135426389 120 0
CTCF CD4SISSRdata 135426269 135426389 120 0
CTCF G2GSE9613 135398715 135398893 178 0
CTCF G2GSE9613 135404519 135404798 279 0
CTCF G2GSE9613 135411342 135411687 345 0
CTCF G2GSE9613 135412795 135413201 406 0
CTCF G2GSE9613 135415432 135415766 334 0
CTCF G2GSE9613 135426236 135426774 538 0
ER E2-MCF7GSE14664 135419652 135419688 36 0
ER Fulvestrant-MCF7GSE14664 135406144 135406175 31 0
FOXA1 MCF7GSE15244 135416492 135418011 1519 0
FOXA1 MCF7GSE15244 135421570 135423178 1608 0
FoxA1 MCF7MACSdata 135417210 135417638 428 0
FoxA1 MCF7MACSdata 135422147 135422463 316 0
H3ac HepG2E 135393161 135396016 2855 0
Oct1 HelaGSE14283 135416419 135416496 77 0
RARA MCF7GSE15244 135416786 135418520 1734 0
RARA MCF7GSE15244 135420865 135423215 2350 0
TFAP2C MCF7GSE21234 135396114 135396523 409 0
TFAP2C MCF7GSE21234 135417021 135417864 843 0
hScc1 BcellGSE12603 135425812 135426626 814 0
hScc1 CdLSGSE12603 135425887 135426880 993 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 19136465
hsa-miR-1 hsa-mir-1-1 20 19136465
hsa-miR-133a hsa-mir-133a-1 18 19136465
hsa-miR-133a hsa-mir-133a-2 20 19136465
hsa-miR-133b hsa-mir-133b 6 19136465
hsa-miR-155 hsa-mir-155 21 19136465
hsa-miR-155* hsa-mir-155 21 19136465
hsa-miR-17 hsa-mir-17 13 19155294
hsa-miR-17 hsa-mir-17 13 19136465
hsa-miR-17* hsa-mir-17 13 19155294
hsa-miR-17* hsa-mir-17 13 19136465
hsa-miR-21 hsa-mir-21 17 19136465
hsa-miR-21* hsa-mir-21 17 19136465
hsa-miR-92a hsa-mir-92a-1 13 19155294
hsa-miR-92a hsa-mir-92a-2 X 19155294
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved