AutismKB 2.0

Annotation Detail for C11orf30


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Basic Information Top
Gene Symbol:C11orf30 ( EMSY,FLJ90741 )
Gene Full Name: chromosome 11 open reading frame 30
Band: 11q13.5
Quick LinksEntrez ID:56946; OMIM: 608574; Uniprot ID:EMSY_HUMAN; ENSEMBL ID: ENSG00000158636; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
207Phosphothreonine.
209Phosphoserine.
213Phosphoserine.
228O-linked (GlcNAc) (By similarity).
238Phosphoserine.
262Phosphothreonine.
273Phosphothreonine.
274Phosphothreonine.
1130Phosphoserine.
1136Phosphoserine.
Location(AA) Modifications Resource
209Phosphoserine.Swiss-Prot 53.0
209PhosphoserinePhospho.ELM 6.0
228O-linked (GlcNAc) (By similarity).Swiss-Prot 53.0
238Phosphoserine.Swiss-Prot 53.0
238PhosphoserinePhospho.ELM 6.0
1136Phosphoserine.Swiss-Prot 53.0
1136PhosphoserinePhospho.ELM 6.0
1213PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
82N-linkedHMM predict
87N-linkedHMM predict
127N-linkedHMM predict
148O-linkedHMM predict
148O-linkedHMM predict
150O-linkedHMM predict
151O-linkedHMM predict
151O-linkedHMM predict
151Phosphoserine(IKK)HMM predict
152O-linkedHMM predict
152Phosphothreonine(MAPK)HMM predict
152Phosphothreonine(CDK)HMM predict
154O-linkedHMM predict
154O-linkedHMM predict
155O-linkedHMM predict
155O-linkedHMM predict
156O-linkedHMM predict
156PhosphothreonineHMM predict
160O-linkedHMM predict
160O-linkedHMM predict
162O-linkedHMM predict
165O-linkedHMM predict
165Phosphothreonine(PKC)HMM predict
168Phosphoserine(CDC2)HMM predict
168Phosphoserine(CDK)HMM predict
173Phosphoserine(CDC2)HMM predict
173Phosphoserine(IKK)HMM predict
188Phosphotyrosine(EGFR)HMM predict
188Phosphotyrosine(Jak)HMM predict
188Phosphotyrosine(Jak)HMM predict
195Phosphoserine(ATM)HMM predict
207Phosphothreonine(PKA)HMM predict
207Phosphothreonine(PKC)HMM predict
208N-linkedHMM predict
209Phosphoserine(IKK)HMM predict
210Phosphoserine(CDC2)HMM predict
212Phosphoserine(CK1)HMM predict
213Phosphoserine(CDC2)HMM predict
228O-linkedHMM predict
238Phosphoserine(CDC2)HMM predict
267O-linkedHMM predict
271O-linkedHMM predict
272N-linkedHMM predict
273O-linkedHMM predict
275O-linkedHMM predict
282O-linkedHMM predict
283O-linkedHMM predict
284Phosphoserine(CDC2)HMM predict
284Phosphoserine(CDK)HMM predict
284Phosphoserine(IKK)HMM predict
286O-linkedHMM predict
286O-linkedHMM predict
288O-linkedHMM predict
300Phosphotyrosine(Syk)HMM predict
310O-linkedHMM predict
316O-linkedHMM predict
329O-linkedHMM predict
329Phosphoserine(IKK)HMM predict
332Phosphoserine(IKK)HMM predict
333N-linkedHMM predict
338Phosphoserine(IKK)HMM predict
341Phosphoserine(IKK)HMM predict
342O-linkedHMM predict
342O-linkedHMM predict
344O-linkedHMM predict
344Phosphoserine(CDC2)HMM predict
353O-linkedHMM predict
357O-linkedHMM predict
357O-linkedHMM predict
359Phosphothreonine(MAPK)HMM predict
361O-linkedHMM predict
361O-linkedHMM predict
365O-linkedHMM predict
388Phosphoserine(IKK)HMM predict
427O-linkedHMM predict
430O-linkedHMM predict
438Phosphoserine(CDK)HMM predict
479O-linkedHMM predict
502O-linkedHMM predict
504O-linkedHMM predict
506O-linkedHMM predict
509O-linkedHMM predict
514O-linkedHMM predict
514O-linkedHMM predict
516Phosphoserine(CDC2)HMM predict
531Phosphotyrosine(Jak)HMM predict
534O-linkedHMM predict
535O-linkedHMM predict
561O-linkedHMM predict
563O-linkedHMM predict
678O-linkedHMM predict
715N-linkedHMM predict
716Phosphotyrosine(INSR)HMM predict
722Phosphoserine(CK1)HMM predict
727Phosphoserine(CK1)HMM predict
727Phosphoserine(IKK)HMM predict
730Phosphoserine(IKK)HMM predict
767Phosphoserine(CK1)HMM predict
769Phosphoserine(ATM)HMM predict
771Phosphoserine(IKK)HMM predict
773O-linkedHMM predict
793Phosphoserine(CK1)HMM predict
799Phosphothreonine(PKA)HMM predict
818Phosphoserine(CDC2)HMM predict
818Phosphoserine(MAPK)HMM predict
818Phosphoserine(IKK)HMM predict
863Phosphoserine(IKK)HMM predict
876Phosphoserine(ATM)HMM predict
876Phosphoserine(IKK)HMM predict
880O-linkedHMM predict
883O-linkedHMM predict
946Phosphoserine(ATM)HMM predict
955Phosphoserine(ATM)HMM predict
974Phosphothreonine(CDK)HMM predict
1005Phosphothreonine(MAPK)HMM predict
1068Phosphotyrosine(Jak)HMM predict
1073Phosphothreonine(MAPK)HMM predict
1079Phosphoserine(CK1)HMM predict
1079Phosphoserine(IKK)HMM predict
1083Phosphoserine(CDC2)HMM predict
1090Phosphoserine(IKK)HMM predict
1130Phosphoserine(CDC2)HMM predict
1130Phosphoserine(MAPK)HMM predict
1130Phosphoserine(CDK)HMM predict
1130Phosphoserine(IKK)HMM predict
1133O-linkedHMM predict
1141Phosphoserine(PKC)HMM predict
1186Phosphoserine(IKK)HMM predict
1199N-linkedHMM predict
1210Phosphoserine(PKA)HMM predict
1213O-linkedHMM predict
1213Phosphoserine(CK1)HMM predict
1213Phosphoserine(CDC2)HMM predict
1213Phosphoserine(IKK)HMM predict
1215O-linkedHMM predict
1216O-linkedHMM predict
1222Phosphothreonine(PKC)HMM predict
1285N-linkedHMM predict
1304Phosphoserine(CK1)HMM predict
1304Phosphoserine(CK2)HMM predict
1313O-linkedHMM predict
1313PhosphoserineHMM predict
1315O-linkedHMM predict
1315Phosphoserine(CK1)HMM predict
1315Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020193
  • Location:chr11 75833716-75940235
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 75832456 75833128 672 925
H3ac HepG2E 75832081 75834272 2191 540
LIN9 G0GSE7516 75832980 75834304 1324 75
LIN9 SGSE7516 75833051 75834238 1187 72
Oct1 H2O2-HelaGSE14283 75825582 75825633 51 8109
Oct1 HelaGSE14283 75815702 75815740 38 17996
Oct1 HelaGSE14283 75815849 75815881 32 17852
Oct1 HelaGSE14283 75825570 75825641 71 8111
PHF8 Hs68plusFBSGSE20725 75832557 75833784 1227 546
Pol2 GM12878GSE19551 75832922 75833984 1062 264
RARA MCF7GSE15244 75832552 75833660 1108 611
RARG MCF7GSE15244 75832585 75833696 1111 576
Rb GrowingGSE19898 75833397 75833841 444 98
Rb QuiescentGSE19898 75833157 75833841 684 218
Rb SenescentGSE19898 75832888 75833833 945 356
Rb shRbQuiescentGSE19898 75833391 75833801 410 121
Rb shRbSenescenceGSE19898 75833225 75833791 566 209
TAF HelaGSE8489 75831081 75831326 245 2513
TAF HelaGSE8489 75832081 75833696 1615 828
TAF k562GSE8489 75832081 75833733 1652 810
p130 QuiescentGSE19898 75832835 75833878 1043 360
p130 SenescentGSE19898 75832858 75833964 1106 306
p130 shRbQuiescentGSE19898 75832731 75834443 1712 130
p130 shRbSenescentGSE19898 75832882 75833796 914 378
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 75942900 75942927 27 2678
Oct1 H2O2-HelaGSE14283 75958586 75958619 33 18367
Oct1 HelaGSE14283 75958586 75958620 34 18368
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 75913570 75913606 36 0
ETS1 JurkatGSE17954 75832686 75834753 2067 0
FOXA1 DLD1GSE12801 75911983 75912363 380 0
FOXA1 MCF7GSE15244 75832726 75834771 2045 0
FOXA1 MCF7GSE15244 75911983 75912160 177 0
FOXA1 MCF7GSE15244 75913717 75913983 266 0
Nanog ESGSE20650 75844024 75844547 523 0
Oct1 H2O2-HelaGSE14283 75867672 75867732 60 0
Oct1 H2O2-HelaGSE14283 75885884 75885918 34 0
Oct1 H2O2-HelaGSE14283 75899190 75899225 35 0
Oct1 H2O2-HelaGSE14283 75907502 75907550 48 0
Oct1 HelaGSE14283 75854640 75854667 27 0
Oct1 HelaGSE14283 75867665 75867749 84 0
Oct1 HelaGSE14283 75885821 75885909 88 0
Oct1 HelaGSE14283 75907502 75907569 67 0
Oct1 HelaGSE14283 75913574 75913602 28 0
Oct1 HelaGSE14283 75921657 75921713 56 0
Oct1 HelaGSE14283 75930007 75930041 34 0
p130 QuiescentGSE19898 75834008 75834431 423 0
p130 SGSE7516 75833051 75834425 1374 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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