AutismKB 2.0

Annotation Detail for EXT1


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Basic Information Top
Gene Symbol:EXT1 ( EXT,LGCR,LGS,TRPS2,TTV )
Gene Full Name: exostosin 1
Band: 8q24.11
Quick LinksEntrez ID:2131; OMIM: 608177; Uniprot ID:EXT1_HUMAN; ENSEMBL ID: ENSG00000182197; HGNC ID: 3512
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
89N-linked (GlcNAc...) (Potential).
330N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
89N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
330N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
76Phosphoserine(CK1)HMM predict
77Phosphoserine(CK1)HMM predict
89N-linkedHMM predict
220Phosphoserine(PKG)HMM predict
319Phosphotyrosine(Syk)HMM predict
324SulfotyrosineHMM predict
330N-linkedHMM predict
492Phosphoserine(ATM)HMM predict
494Phosphoserine(ATM)HMM predict
634SulfotyrosineHMM predict
678Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000127
  • Location:chr8 118880782-119193238
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 119202051 119202336 285 8955
CTCF CD4SISSRdata 119202051 119202336 285 8955
FOXA1 MCF7GSE15244 119203664 119204202 538 10695
KLF4 hESGSE17917 119205156 119205426 270 12053
NFkBII GM12892GSE19485 119192999 119194063 1064 293
PHF8 HeLaGSE20725 119192730 119193833 1103 43
Pol2 GM12878GSE19551 119193154 119193659 505 168
hScc1 BcellGSE12603 119201852 119202494 642 8935
hScc1 CdLSGSE12603 119195416 119195582 166 2261
hScc1 CdLSGSE12603 119201888 119202530 642 8971
p130 QuiescentGSE19898 119194299 119194740 441 1281
p130 SenescentGSE19898 119194231 119195050 819 1402
p130 SenescentGSE19898 119205640 119205801 161 12482
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 118876273 118876774 501 4259
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 118928835 118929721 886 0
CBP T30-glioblastomaGSE21026 119092217 119093453 1236 0
CTCF CD4GSE12889 118943366 118943883 517 0
CTCF CD4SISSRdata 118943366 118943883 517 0
ER E2-MCF7GSE14664 119116807 119116841 34 0
FOXA1 DLD1GSE12801 118948866 118949265 399 0
FOXA1 DLD1GSE12801 118967565 118968280 715 0
FOXA1 DLD1GSE12801 119001837 119002159 322 0
FOXA1 DLD1GSE12801 119062069 119062965 896 0
FOXA1 DLD1GSE12801 119073289 119074193 904 0
FOXA1 DLD1GSE12801 119100024 119100530 506 0
FOXA1 DLD1GSE12801 119111119 119111854 735 0
FOXA1 DLD1GSE12801 119149390 119149688 298 0
FOXA1 DLD1GSE12801 119159941 119160502 561 0
FOXA1 DLD1GSE12801 119168662 119170225 1563 0
FOXA1 DLD1GSE12801 119171208 119171539 331 0
FOXA1 MCF7GSE15244 118915548 118915717 169 0
FOXA1 MCF7GSE15244 118918545 118919015 470 0
FOXA1 MCF7GSE15244 118929584 118930131 547 0
FOXA1 MCF7GSE15244 118943454 118944300 846 0
FOXA1 MCF7GSE15244 118945056 118945389 333 0
FOXA1 MCF7GSE15244 118967771 118968136 365 0
FOXA1 MCF7GSE15244 118992594 118992924 330 0
FOXA1 MCF7GSE15244 119029036 119029443 407 0
FOXA1 MCF7GSE15244 119065919 119066787 868 0
FOXA1 MCF7GSE15244 119073289 119074089 800 0
FOXA1 MCF7GSE15244 119081605 119082352 747 0
FOXA1 MCF7GSE15244 119086009 119086799 790 0
FOXA1 MCF7GSE15244 119111119 119111613 494 0
FOXA1 MCF7GSE15244 119169834 119170339 505 0
FOXA1 MCF7GSE15244 119171288 119171539 251 0
FOXA1 MCF7GSE15244 119190889 119191282 393 0
FOXA1 MCF7GSE15244 119191844 119192803 959 0
GATA3 MCF7GSE15244 119081565 119082572 1007 0
H3K4me2 HCT116GSE10453 119190761 119191210 449 0
H3K4me3 colorectalcancer 119190282 119192661 2379 0
H3ac HepG2E 119027857 119028785 928 0
H3ac HepG2E 119070690 119071011 321 0
H3ac HepG2E 119188735 119192885 4150 0
NFkBII GM12878GSE19485 119079707 119080900 1193 0
NFkBII GM15510GSE19485 119192305 119194064 1759 0
Nanog hESGSE18292 118896799 118897114 315 0
Nanog hESGSE18292 119021828 119022036 208 0
Nanog hESGSE18292 119028940 119029352 412 0
Nanog hESGSE18292 119040169 119040791 622 0
Nanog hESGSE18292 119076552 119076922 370 0
Nanog hESGSE18292 119125316 119125562 246 0
Oct1 H2O2-HelaGSE14283 118883634 118883662 28 0
Oct1 H2O2-HelaGSE14283 118951044 118951072 28 0
Oct1 H2O2-HelaGSE14283 118952485 118952528 43 0
Oct1 H2O2-HelaGSE14283 119077070 119077101 31 0
Oct1 H2O2-HelaGSE14283 119106457 119106485 28 0
Oct1 H2O2-HelaGSE14283 119147066 119147101 35 0
Oct1 HelaGSE14283 118883634 118883662 28 0
Oct1 HelaGSE14283 118928028 118928065 37 0
Oct1 HelaGSE14283 118931062 118931134 72 0
Oct1 HelaGSE14283 118952485 118952531 46 0
Oct1 HelaGSE14283 118959145 118959219 74 0
Oct1 HelaGSE14283 119074204 119074245 41 0
Oct1 HelaGSE14283 119077070 119077098 28 0
Oct1 HelaGSE14283 119106457 119106485 28 0
Oct1 HelaGSE14283 119116807 119116837 30 0
Oct1 HelaGSE14283 119147066 119147095 29 0
Oct1 HelaGSE14283 119177189 119177237 48 0
P300 T0-glioblastomaGSE21026 119159837 119160722 885 0
P300 T30-glioblastomaGSE21026 118928721 118930212 1491 0
P300 T30-glioblastomaGSE21026 119058855 119060621 1766 0
P300 T30-glioblastomaGSE21026 119092325 119093651 1326 0
P300 T30-glioblastomaGSE21026 119099222 119101303 2081 0
RARA MCF7GSE15244 118929551 118930131 580 0
RARA MCF7GSE15244 118943266 118944480 1214 0
RARA MCF7GSE15244 119028961 119029356 395 0
RARA MCF7GSE15244 119073289 119074089 800 0
RARA MCF7GSE15244 119081538 119082572 1034 0
RARA MCF7GSE15244 119146720 119147013 293 0
RARA MCF7GSE15244 119159941 119160162 221 0
RARG MCF7GSE15244 118929584 118930202 618 0
RARG MCF7GSE15244 118943230 118943633 403 0
RARG MCF7GSE15244 118944878 118945389 511 0
RARG MCF7GSE15244 119022604 119022824 220 0
RARG MCF7GSE15244 119028961 119029475 514 0
RARG MCF7GSE15244 119073289 119073935 646 0
RARG MCF7GSE15244 119081605 119082572 967 0
RARG MCF7GSE15244 119189053 119189383 330 0
RARG MCF7GSE15244 119189967 119192803 2836 0
RNAII Tamoxifen-MCF7GSE14664 118884693 118884783 90 0
Rb QuiescentGSE19898 119192223 119192634 411 0
SRF HelaGSE8489 119091863 119094191 2328 0
STAT1 HeLaGSE12782 119011618 119013348 1730 0
STAT1 HeLaGSE12783 119011678 119013314 1636 0
STAT1 HeLaGSE12783 119137416 119138481 1065 0
Sox2 hESGSE18292 119028861 119029209 348 0
Sox2 hESGSE18292 119040387 119040628 241 0
TFAP2C MCF7GSE21234 118896209 118896812 603 0
TFAP2C MCF7GSE21234 118928941 118929492 551 0
USF1 HepG2E 119027695 119028224 529 0
USF1 HepG2E 119070690 119071304 614 0
USF2 HepG2E 119070690 119071304 614 0
hScc1 BcellGSE12603 118943230 118943840 610 0
hScc1 BcellGSE12603 119190007 119190611 604 0
hScc1 BcellGSE12603 119192294 119193462 1168 0
hScc1 CdLSGSE12603 118943230 118944154 924 0
hScc1 CdLSGSE12603 119190111 119190545 434 0
hScc1 CdLSGSE12603 119192988 119193462 474 0
hScc1 G2GSE9613 118943230 118943910 680 0
p130 QuiescentGSE19898 119001981 119002238 257 0
p130 QuiescentGSE19898 119092926 119093265 339 0
p130 SenescentGSE19898 119038239 119038624 385 0
p130 SenescentGSE19898 119092115 119092828 713 0
p130 SenescentGSE19898 119093008 119093151 143 0
p130 shRbQuiescentGSE19898 119093734 119094167 433 0
p130 shRbSenescentGSE19898 118895564 118895816 252 0
p63 keratinocytesGSE17611 119081533 119082355 822 0
p63 keratinocytesGSE17611 119098423 119099734 1311 0
p63 keratinocytesGSE17611 119115653 119117052 1399 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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