AutismKB 2.0

Annotation Detail for EMCN


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Basic Information Top
Gene Symbol:EMCN ( EMCN2,MUC14 )
Gene Full Name: endomucin
Band: 4q24
Quick LinksEntrez ID:51705; OMIM: 608350; Uniprot ID:MUCEN_HUMAN; ENSEMBL ID: ENSG00000164035; HGNC ID: 16041
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
19N-linked (GlcNAc...) (Potential).
28N-linked (GlcNAc...) (Potential).
98N-linked (GlcNAc...) (Potential).
104N-linked (GlcNAc...) (Potential).
164N-linked (GlcNAc...) (Potential).
178N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
19N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
28N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
98N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
104N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
164N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
178N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
19N-linkedHMM predict
28N-linkedHMM predict
29N-linkedHMM predict
35O-linkedHMM predict
39O-linkedHMM predict
39O-linkedHMM predict
42Phosphothreonine(CDK)HMM predict
56O-linkedHMM predict
56O-linkedHMM predict
60Phosphothreonine(CDK)HMM predict
60O-linkedHMM predict
98N-linkedHMM predict
104N-linkedHMM predict
106O-linkedHMM predict
109O-linkedHMM predict
117O-linkedHMM predict
118Phosphothreonine(PKC)HMM predict
131O-linkedHMM predict
147Phosphoserine(CDK)HMM predict
147PhosphoserineHMM predict
147Phosphoserine(CDC2)HMM predict
149O-linkedHMM predict
151O-linkedHMM predict
153O-linkedHMM predict
155O-linkedHMM predict
160O-linkedHMM predict
164N-linkedHMM predict
166Phosphoserine(CK1)HMM predict
178N-linkedHMM predict
181O-linkedHMM predict
182O-linkedHMM predict
184O-linkedHMM predict
184Phosphothreonine(PKC)HMM predict
185O-linkedHMM predict
223Phosphothreonine(CDC2)HMM predict
233Phosphoserine(CK2)HMM predict
242Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016242
  • Location:chr4 101538008-101658201
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 101535867 101536240 373 1955
Oct1 H2O2-HelaGSE14283 101524773 101524812 39 13216
Oct1 HelaGSE14283 101524773 101524812 39 13216
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 101561620 101561788 168 0
CTCF CD4SISSRdata 101561620 101561788 168 0
CTCF G2GSE9613 101622623 101622952 329 0
FOXA1 MCF7GSE15244 101633937 101635416 1479 0
FOXA1 eGFPGSE10845 101633937 101635416 1479 0
hScc1 G2GSE9613 101627402 101627643 241 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