AutismKB 2.0

Annotation Detail for HMGB1


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Basic Information Top
Gene Symbol:HMGB1 ( DKFZp686A04236,HMG1,HMG3,SBP-1 )
Gene Full Name: high-mobility group box 1
Band: 13q12.3
Quick LinksEntrez ID:3146; OMIM: 163905; Uniprot ID:HMGB1_HUMAN; ENSEMBL ID: ENSG00000189403; HGNC ID: 4983
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
12N6-acetyllysine.
30N6-acetyllysine.
35Phosphoserine.
100Phosphoserine.
Location(AA) Modifications Resource
30N6-acetyllysine.Swiss-Prot 53.0
Location(AA) Modification Resource
37N-linkedHMM predict
51Phosphothreonine(PKC)HMM predict
78Phosphotyrosine(INSR)HMM predict
90MethyllysineHMM predict
134N-linkedHMM predict
135N-linkedHMM predict
144Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002128
  • Location:chr13 29931996-29938012
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 29937659 29938440 781 37
E2F4 G0GSE7516 29937773 29938869 1096 309
Fos K562GSE19551 29937923 29938432 509 165
LIN54 SGSE7516 29937993 29938692 699 330
LIN9 G0GSE7516 29937773 29939141 1368 445
LIN9 SGSE7516 29937924 29939250 1326 575
PHF8 293TGSE20725 29937589 29938750 1161 157
Rb QuiescentGSE19898 29937999 29938354 355 164
Rb SenescentGSE19898 29937999 29938359 360 167
TAF k562GSE8489 29938513 29939586 1073 1037
TFAP2C MCF7GSE21234 29953446 29953762 316 15592
hScc1 BcellGSE12603 29937659 29938650 991 142
hScc1 G2GSE9613 29937659 29938614 955 124
p130 QuiescentGSE19898 29937896 29938630 734 251
p130 SenescentGSE19898 29937885 29938741 856 301
p130 shRbQuiescentGSE19898 29937874 29938986 1112 418
p130 shRbSenescentGSE19898 29937773 29938931 1158 340
p130 G0GSE7516 29937888 29939105 1217 484
p130 SGSE7516 29937924 29939036 1112 468
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 29918361 29918876 515 13378
hScc1 BcellGSE12603 29918016 29918340 324 13819
p130 shRbSenescentGSE19898 29918065 29918239 174 13845
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 29933800 29934223 423 0
CTCF CD4SISSRdata 29933800 29934223 423 0
H3K4me3 colorectalcancer 29935953 29936663 710 0
H3ac HepG2E 29935798 29936357 559 0
TAF k562GSE8489 29935798 29936470 672 0
hScc1 BcellGSE12603 29935869 29936687 818 0
hScc1 CdLSGSE12603 29935953 29936687 734 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