AutismKB 2.0

Annotation Detail for DEF6


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Basic Information Top
Gene Symbol:DEF6 ( IBP,SLAT,SWAP70L )
Gene Full Name: differentially expressed in FDCP 6 homolog (mouse)
Band: 6p21.31
Quick LinksEntrez ID:50619; OMIM: 610094; Uniprot ID:DEFI6_HUMAN; ENSEMBL ID: ENSG00000023892; HGNC ID: 2760
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
210Phosphotyrosine (Probable).
225N6-acetyllysine.
590Phosphoserine.
597Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022047
  • Location:chr6 35373572-35397523
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 35373263 35373688 425 97
CTCF CD4SISSRdata 35373263 35373688 425 97
CTCF JurkatGSE12889 35373354 35373617 263 87
hScc1 CdLSGSE12603 35373305 35373770 465 35
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 35403240 35403626 386 5910
CTCF CD4SISSRdata 35403240 35403626 386 5910
CTCF G2GSE9613 35403098 35403608 510 5830
Myc K562GSE19551 35403327 35403580 253 5930
USF1 HepG2E 35402715 35403608 893 5638
hScc1 BcellGSE12603 35403246 35403608 362 5904
hScc1 CdLSGSE12603 35402684 35403608 924 5623
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 35373305 35374199 894 0
CTCF G2GSE9613 35393534 35393844 310 0
CTCF G2GSE9613 35395119 35395777 658 0
ER MCF7GSE19013 35388417 35388891 474 0
H3K4me3 colorectalcancer 35374684 35374925 241 0
H3ac HepG2E 35373677 35374132 455 0
H3ac HepG2E 35374457 35374925 468 0
Oct1 H2O2-HelaGSE14283 35383033 35383072 39 0
Oct1 HelaGSE14283 35383033 35383079 46 0
RARA MCF7GSE15244 35380089 35380464 375 0
RARA MCF7GSE15244 35393164 35393568 404 0
TFAP2C MCF7GSE21234 35379945 35380546 601 0
hScc1 BcellGSE12603 35373305 35374024 719 0
p63 keratinocytesGSE17611 35373142 35374379 1237 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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