AutismKB 2.0

Annotation Detail for NSMCE2


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Basic Information Top
Gene Symbol:NSMCE2 ( C8orf36,FLJ32440,MMS21,NSE2 )
Gene Full Name: non-SMC element 2, MMS21 homolog (S. cerevisiae)
Band: 8q24.13
Quick LinksEntrez ID:286053; OMIM: NA; Uniprot ID:NSE2_HUMAN; ENSEMBL ID: ENSG00000156831; HGNC ID: 26513
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
209Phosphotyrosine.
216Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
7Phosphoserine(IKK)HMM predict
9Phosphoserine(CK1)HMM predict
25Phosphoserine(CK1)HMM predict
53Phosphothreonine(PKC)HMM predict
166N-linkedHMM predict
189Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_173685
  • Location:chr8 126173276-126448542
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 126172711 126173666 955 88
Fos K562GSE19551 126172972 126173489 517 46
H3K4me2 HCT116GSE10453 126172163 126172819 656 786
H3K4me3 colorectalcancer 126172129 126174239 2110 93
H3ac HepG2E 126172024 126172998 974 766
P300 T30-glioblastomaGSE21026 126172505 126173874 1369 87
PHF8 293TGSE20725 126172507 126173875 1368 86
PHF8 HeLaGSE20725 126172585 126173948 1363 10
RARA MCF7GSE15244 126170277 126170694 417 2791
RARA MCF7GSE15244 126172059 126172855 796 820
Rb QuiescentGSE19898 126173123 126173405 282 13
USF1 HepG2E 126171718 126174239 2521 298
USF2 HepG2E 126172094 126174239 2145 110
hScc1 CdLSGSE12603 126172489 126173147 658 459
p130 shRbQuiescentGSE19898 126172854 126173685 831 7
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 126457129 126457194 65 8619
ER E2-MCF7GSE14664 126458813 126458918 105 10323
ER E2-MCF7GSE14664 126462206 126462258 52 13690
ER E2-MCF7GSE14664 126463893 126463958 65 15383
ER E2-MCF7GSE14664 126467267 126467356 89 18769
ER Fulvestrant-MCF7GSE14664 126458797 126458840 43 10276
FOXA1 MCF7GSE15244 126467474 126468078 604 19234
Fos K562GSE19551 126465050 126465574 524 16770
GABP HelaGSE8489 126449272 126449570 298 879
Nanog hESGSE18292 126468125 126468580 455 19810
Oct1 HelaGSE14283 126450422 126450488 66 1913
Oct1 HelaGSE14283 126455445 126455534 89 6947
Oct1 HelaGSE14283 126467241 126467310 69 18733
RARA MCF7GSE15244 126467510 126468078 568 19252
RARG MCF7GSE15244 126467510 126468078 568 19252
Sox2 hESGSE18292 126468110 126468514 404 19770
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 126172830 126174032 1202 0
CBP T30-glioblastomaGSE21026 126354480 126355823 1343 0
CTCF CD4GSE12889 126312225 126312426 201 0
CTCF CD4SISSRdata 126312225 126312426 201 0
ER E2-MCF7GSE14664 126426615 126426657 42 0
ER E2-MCF7GSE14664 126433361 126433451 90 0
ER E2-MCF7GSE14664 126436760 126436838 78 0
ER E2-MCF7GSE14664 126438480 126438548 68 0
ER E2-MCF7GSE14664 126441903 126441957 54 0
ER Fulvestrant-MCF7GSE14664 126340412 126340462 50 0
ER Fulvestrant-MCF7GSE14664 126436814 126436871 57 0
ER Fulvestrant-MCF7GSE14664 126438457 126438550 93 0
ER Fulvestrant-MCF7GSE14664 126440181 126440216 35 0
ER Fulvestrant-MCF7GSE14664 126441884 126441920 36 0
FOXA1 DLD1GSE12801 126192210 126192715 505 0
FOXA1 DLD1GSE12801 126273022 126273678 656 0
FOXA1 DLD1GSE12801 126354590 126355117 527 0
FOXA1 MCF7GSE15244 126173312 126173543 231 0
FOXA1 MCF7GSE15244 126179811 126179995 184 0
FOXA1 MCF7GSE15244 126192210 126192680 470 0
FOXA1 MCF7GSE15244 126206901 126207102 201 0
FOXA1 MCF7GSE15244 126273059 126273528 469 0
FOXA1 MCF7GSE15244 126300716 126300858 142 0
FOXA1 MCF7GSE15244 126354379 126354976 597 0
FOXA1 MCF7GSE15244 126366406 126366917 511 0
FOXA1 MCF7GSE15244 126391168 126391636 468 0
FOXA1 MCF7GSE15244 126414299 126414469 170 0
FOXA1 MCF7GSE15244 126423414 126424176 762 0
FOXA1 MCF7GSE15244 126425486 126425860 374 0
FOXA1 MCF7GSE15244 126443343 126443931 588 0
Fos K562GSE19551 126192167 126192767 600 0
Fos K562GSE19551 126300668 126301186 518 0
FoxA1 MCF7MACSdata 126192239 126192544 305 0
FoxA1 MCF7MACSdata 126354458 126354755 297 0
GATA3 MCF7GSE15244 126416908 126417487 579 0
Gata1 K562GSE18868 126262243 126262856 613 0
Gata2 K562GSE18868 126262190 126262898 708 0
Gata2 K562GSE18868 126415159 126416145 986 0
H3K4me2 HCT116GSE10453 126173543 126174239 696 0
H3ac HepG2E 126173261 126174239 978 0
Jun K562GSE19551 126192219 126192643 424 0
Myc K562GSE19551 126262349 126262653 304 0
Myc K562GSE19551 126274091 126274384 293 0
Myc K562GSE19551 126394074 126394443 369 0
NFkBII GM12878GSE19485 126289995 126292234 2239 0
Nanog hESGSE18292 126342496 126342914 418 0
Nanog hESGSE18292 126435705 126436066 361 0
Oct1 H2O2-HelaGSE14283 126209735 126209770 35 0
Oct1 H2O2-HelaGSE14283 126295057 126295093 36 0
Oct1 H2O2-HelaGSE14283 126302375 126302405 30 0
Oct1 H2O2-HelaGSE14283 126305645 126305672 27 0
Oct1 H2O2-HelaGSE14283 126374605 126374634 29 0
Oct1 H2O2-HelaGSE14283 126404408 126404439 31 0
Oct1 HelaGSE14283 126206441 126206473 32 0
Oct1 HelaGSE14283 126206539 126206578 39 0
Oct1 HelaGSE14283 126209735 126209771 36 0
Oct1 HelaGSE14283 126250391 126250420 29 0
Oct1 HelaGSE14283 126295057 126295093 36 0
Oct1 HelaGSE14283 126298569 126298598 29 0
Oct1 HelaGSE14283 126300976 126301008 32 0
Oct1 HelaGSE14283 126305633 126305674 41 0
Oct1 HelaGSE14283 126328537 126328590 53 0
Oct1 HelaGSE14283 126340368 126340445 77 0
Oct1 HelaGSE14283 126404409 126404438 29 0
Oct1 HelaGSE14283 126414715 126414742 27 0
Oct1 HelaGSE14283 126424953 126424996 43 0
Oct1 HelaGSE14283 126428294 126428383 89 0
Oct1 HelaGSE14283 126431706 126431781 75 0
Oct1 HelaGSE14283 126438468 126438572 104 0
Oct1 HelaGSE14283 126440174 126440268 94 0
Oct1 HelaGSE14283 126441858 126441973 115 0
Oct1 HelaGSE14283 126446989 126447094 105 0
P300 T30-glioblastomaGSE21026 126300300 126302485 2185 0
P300 T30-glioblastomaGSE21026 126313956 126314996 1040 0
P300 T30-glioblastomaGSE21026 126354257 126355791 1534 0
P300 T30-glioblastomaGSE21026 126422752 126424514 1762 0
RARA MCF7GSE15244 126173868 126174239 371 0
RARA MCF7GSE15244 126192210 126192901 691 0
RARA MCF7GSE15244 126206901 126207102 201 0
RARA MCF7GSE15244 126295560 126295950 390 0
RARA MCF7GSE15244 126354379 126355626 1247 0
RARA MCF7GSE15244 126364017 126364340 323 0
RARA MCF7GSE15244 126391168 126391636 468 0
RARA MCF7GSE15244 126414096 126414469 373 0
RARA MCF7GSE15244 126415562 126415948 386 0
RARG MCF7GSE15244 126192210 126192901 691 0
RARG MCF7GSE15244 126206901 126207102 201 0
RARG MCF7GSE15244 126295595 126295950 355 0
RARG MCF7GSE15244 126354624 126355447 823 0
RARG MCF7GSE15244 126391168 126391573 405 0
RARG MCF7GSE15244 126441699 126442124 425 0
RNAII Tamoxifen-MCF7GSE14664 126269080 126269165 85 0
Rb GrowingGSE19898 126173147 126173642 495 0
Rb SenescentGSE19898 126173134 126173434 300 0
STAT1 HeLaGSE12783 126211023 126212434 1411 0
USF1 HepG2E 126415562 126416166 604 0
VDR GM10855-stimGSE22484 126411716 126413500 1784 0
VDR GM10861-stimGSE22484 126411739 126412975 1236 0
hScc1 BcellGSE12603 126199939 126200839 900 0
hScc1 BcellGSE12603 126308419 126308796 377 0
hScc1 CdLSGSE12603 126199939 126200915 976 0
hScc1 CdLSGSE12603 126233741 126234170 429 0
hScc1 CdLSGSE12603 126434328 126434658 330 0
p130 QuiescentGSE19898 126173088 126173597 509 0
p130 QuiescentGSE19898 126223277 126223425 148 0
p130 SenescentGSE19898 126173073 126173640 567 0
p130 shRbSenescentGSE19898 126173058 126173865 807 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