AutismKB 2.0

Annotation Detail for MFGE8


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Basic Information Top
Gene Symbol:MFGE8 ( BA46,EDIL1,HsT19888,MFG-E8,OAcGD3S,SED1,SPAG10,hP47 )
Gene Full Name: milk fat globule-EGF factor 8 protein
Band: 15q26.1
Quick LinksEntrez ID:4240; OMIM: 602281; Uniprot ID:MFGM_HUMAN; ENSEMBL ID: ENSG00000140545; HGNC ID: 7036
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
48Cell attachment site.
228N-linked (GlcNAc...).
238N-linked (GlcNAc...).
325N-linked (GlcNAc...).
329N-linked (GlcNAc...).
350N-linked (GlcNAc...).
Location(AA) Modifications Resource
238N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
325N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
329N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
350N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
118Phosphothreonine(MAPK)HMM predict
154Phosphotyrosine(Syk)HMM predict
204Phosphotyrosine(EGFR)HMM predict
214O-linkedHMM predict
238N-linkedHMM predict
239N-linkedHMM predict
247O-linkedHMM predict
263N-linkedHMM predict
312Phosphoserine(CDK)HMM predict
325N-linkedHMM predict
329N-linkedHMM predict
350N-linkedHMM predict
356N-linkedHMM predict
377ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005928
  • Location:chr15 87242919-87257613
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 87262826 87263451 625 5525
P300 T0-glioblastomaGSE21026 87262867 87263591 724 5616
P300 T30-glioblastomaGSE21026 87262705 87263631 926 5555
RNAII Tamoxifen-MCF7GSE14664 87268102 87268198 96 10537
Rb QuiescentGSE19898 87265952 87266092 140 8409
p63 keratinocytesGSE17611 87257556 87258511 955 420
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 87241539 87242293 754 1004
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 87248763 87249371 608 0
CTCF CD4SISSRdata 87248763 87249371 608 0
CTCF JurkatGSE12889 87248945 87249285 340 0
CTCF G2GSE9613 87248839 87249842 1003 0
CTCF G2GSE9613 87252347 87252723 376 0
CTCF G2GSE9613 87253614 87253928 314 0
CTCF G2GSE9613 87254300 87254671 371 0
Myc K562GSE19551 87248961 87249387 426 0
Oct1 HelaGSE14283 87247307 87247344 37 0
STAT1 IFNSISSRdata 87248912 87249261 349 0
TFAP2C MCF7GSE21234 87256027 87256613 586 0
hScc1 BcellGSE12603 87248929 87250119 1190 0
hScc1 BcellGSE12603 87252212 87252585 373 0
hScc1 BcellGSE12603 87252972 87253459 487 0
hScc1 BcellGSE12603 87254337 87254777 440 0
hScc1 CdLSGSE12603 87248656 87249398 742 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