AutismKB 2.0

Annotation Detail for EMILIN1


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Basic Information Top
Gene Symbol:EMILIN1 ( DKFZp586M121,EMI,EMILIN,gp115 )
Gene Full Name: elastin microfibril interfacer 1
Band: 2p23.3
Quick LinksEntrez ID:11117; OMIM: 130660; Uniprot ID:EMIL1_HUMAN; ENSEMBL ID: ENSG00000138080; HGNC ID: 19880
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
154N-linked (GlcNAc...) (Potential).
415N-linked (GlcNAc...).
455N-linked (GlcNAc...).
561N-linked (GlcNAc...) (Potential).
658N-linked (GlcNAc...) (Potential).
766N-linked (GlcNAc...).
794N-linked (GlcNAc...).
Location(AA) Modifications Resource
154N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
415N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
455N-linked (GlcNAc...).Swiss-Prot 53.0
561N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
658N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
766N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
794N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
12S-palmitoylHMM predict
13S-palmitoylHMM predict
40Phosphoserine(CDC2)HMM predict
40Phosphoserine(CDK)HMM predict
40O-linkedHMM predict
132Phosphoserine(CDC2)HMM predict
143Phosphothreonine(MAPK)HMM predict
143Phosphothreonine(CDK)HMM predict
156O-linkedHMM predict
158Phosphoserine(CDC2)HMM predict
162Phosphoserine(CDC2)HMM predict
162Phosphoserine(IKK)HMM predict
274O-linkedHMM predict
281O-linkedHMM predict
355Phosphoserine(MAPK)HMM predict
385Phosphothreonine(PKA)HMM predict
400Phosphotyrosine(INSR)HMM predict
415N-linkedHMM predict
491Phosphoserine(ATM)HMM predict
561N-linkedHMM predict
622O-linkedHMM predict
623MethylarginineHMM predict
666Phosphothreonine(PKC)HMM predict
701Phosphothreonine(CK2)HMM predict
766N-linkedHMM predict
839Phosphoserine(ATM)HMM predict
839Phosphoserine(CDC2)HMM predict
882Phosphoserine(IKK)HMM predict
899Phosphotyrosine(INSR)HMM predict
899Phosphotyrosine(Syk)HMM predict
899SulfotyrosineHMM predict
948Phosphotyrosine(INSR)HMM predict
948Phosphotyrosine(Syk)HMM predict
961Phosphoserine(ATM)HMM predict
961Phosphoserine(IKK)HMM predict
964O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007046
  • Location:chr2 27155437-27162766
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 27153720 27154001 281 1577
CTCF G2GSE9613 27154705 27155852 1147 159
H3ac HepG2E 27152430 27154001 1571 2222
Rb QuiescentGSE19898 27154709 27155016 307 575
Rb SenescentGSE19898 27154640 27155101 461 567
hScc1 G2GSE9613 27154749 27155271 522 428
p130 SenescentGSE19898 27154343 27155235 892 649
p130 shRbQuiescentGSE19898 27154399 27155043 644 717
p130 shRbSenescentGSE19898 27154558 27154890 332 714
p130 shRbSenescentGSE19898 27154906 27155237 331 366
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 27162826 27163119 293 206
CTCF CD4SISSRdata 27162826 27163119 293 206
CTCF G2GSE9613 27162544 27163539 995 275
Myc K562GSE19551 27162504 27163258 754 115
Myc hESGSE17917 27162853 27163115 262 218
PHF8 293TGSE20725 27162452 27163775 1323 347
Rb GrowingGSE19898 27162961 27163075 114 252
Rb QuiescentGSE19898 27162934 27163093 159 247
Rb SenescentGSE19898 27162802 27163238 436 254
hScc1 BcellGSE12603 27162397 27163168 771 16
p130 QuiescentGSE19898 27162933 27163075 142 238
p130 SenescentGSE19898 27162925 27163246 321 319
p130 shRbSenescentGSE19898 27162939 27163400 461 403
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 27156845 27157860 1015 0
CTCF G2GSE9613 27158557 27159459 902 0
CTCF G2GSE9613 27160542 27160844 302 0
CTCF G2GSE9613 27161561 27162276 715 0
ETS1 JurkatGSE17954 27157127 27158527 1400 0
H3ac HepG2E 27156779 27157966 1187 0
P300 T0-glioblastomaGSE21026 27157401 27158154 753 0
P300 T30-glioblastomaGSE21026 27157253 27158106 853 0
Rb GrowingGSE19898 27157601 27157840 239 0
Rb QuiescentGSE19898 27157739 27157902 163 0
Rb SenescentGSE19898 27157301 27157888 587 0
TFAP2C MCF7GSE21234 27158860 27159441 581 0
TFAP2C MCF7GSE21234 27161865 27162440 575 0
USF1 HepG2E 27157352 27157966 614 0
hScc1 BcellGSE12603 27157589 27157896 307 0
hScc1 BcellGSE12603 27160669 27160920 251 0
hScc1 CdLSGSE12603 27157382 27157966 584 0
hScc1 CdLSGSE12603 27161799 27163243 1444 0
hScc1 G2GSE9613 27161561 27163389 1828 0
p130 SenescentGSE19898 27156765 27157014 249 0
p130 SenescentGSE19898 27157064 27157320 256 0
p130 SenescentGSE19898 27157343 27157549 206 0
p130 shRbSenescentGSE19898 27157622 27157855 233 0
p63 keratinocytesGSE17611 27157293 27158235 942 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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