AutismKB 2.0

Annotation Detail for EMILIN3


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Basic Information Top
Gene Symbol:EMILIN3 ( C20orf130,DKFZp434A2410,EMILIN5,dJ620E11.4 )
Gene Full Name: elastin microfibril interfacer 3
Band: 20q12
Quick LinksEntrez ID:90187; OMIM: 608929; Uniprot ID:EMIL3_HUMAN; ENSEMBL ID: ENSG00000183798; HGNC ID: 16123
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
66N-linked (GlcNAc...) (Potential).
443N-linked (GlcNAc...) (Potential).
562N-linked (GlcNAc...) (Potential).
616N-linked (GlcNAc...) (Potential).
732N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
66N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
443N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
562N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
616N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
732N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
25Phosphothreonine(CDK)HMM predict
40Phosphoserine(CK1)HMM predict
66N-linkedHMM predict
78Phosphotyrosine(EGFR)HMM predict
120S-palmitoylHMM predict
121S-palmitoylHMM predict
164O-linkedHMM predict
164O-linkedHMM predict
169Phosphoserine(CDC2)HMM predict
245Phosphothreonine(MAPK)HMM predict
292Phosphoserine(MAPK)HMM predict
292Phosphoserine(IKK)HMM predict
292Phosphoserine(CDC2)HMM predict
292PhosphoserineHMM predict
367Phosphoserine(IKK)HMM predict
367Phosphoserine(ATM)HMM predict
371Phosphoserine(ATM)HMM predict
383Phosphoserine(IKK)HMM predict
443N-linkedHMM predict
520O-linkedHMM predict
520Phosphoserine(IKK)HMM predict
522Phosphothreonine(MAPK)HMM predict
522O-linkedHMM predict
526O-linkedHMM predict
532O-linkedHMM predict
562N-linkedHMM predict
597Phosphoserine(IKK)HMM predict
606Phosphoserine(ATM)HMM predict
732N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052846
  • Location:chr20 39422019-39428911
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct4 hESGSE17917 39428737 39429134 397 24
TFAP2C MCF7GSE21234 39435247 39436394 1147 6909
p130 SenescentGSE19898 39439238 39439536 298 10476
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 39428260 39428949 689 0
TFAP2C MCF7GSE21234 39424214 39425250 1036 0
hScc1 BcellGSE12603 39423381 39425160 1779 0
hScc1 BcellGSE12603 39427266 39427706 440 0
hScc1 BcellGSE12603 39428001 39428982 981 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
16375 mRNA chr20 39402906 39422639 620 mRNA EMILIN3 chr20 39422019 39428912Sense/Antisense (SA) pairs

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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