AutismKB 2.0

Annotation Detail for DMBX1


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Basic Information Top
Gene Symbol:DMBX1 ( MBX,OTX3,PAXB )
Gene Full Name: diencephalon/mesencephalon homeobox 1
Band: 1p33
Quick LinksEntrez ID:127343; OMIM: 607410; Uniprot ID:DMBX1_HUMAN; ENSEMBL ID: ENSG00000197587; HGNC ID: 19026
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
372OAR.
Location(AA) Modifications Resource
Location(AA) Modification Resource
74Phosphoserine(PKA)HMM predict
95Phosphotyrosine(EGFR)HMM predict
157Phosphothreonine(MAPK)HMM predict
182Phosphoserine(CK1)HMM predict
189Phosphoserine(IKK)HMM predict
189Phosphoserine(CK2)HMM predict
191Phosphoserine(IKK)HMM predict
191Phosphoserine(CK2)HMM predict
234Phosphoserine(CDC2)HMM predict
241O-linkedHMM predict
257O-linkedHMM predict
259Phosphoserine(CDK)HMM predict
259Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_147192
  • Location:chr1 46745254-46752470
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46725482 46726434 952 19297
CTCF G2GSE9613 46727362 46728413 1051 17367
ER E2-MCF7GSE14664 46730647 46730684 37 14589
Fos K562GSE19551 46727681 46728270 589 17279
Nanog hESGSE18292 46732633 46732996 363 12440
Oct1 H2O2-HelaGSE14283 46730644 46730685 41 14590
Oct1 HelaGSE14283 46730647 46730685 38 14589
hScc1 BcellGSE12603 46726582 46726942 360 18493
hScc1 BcellGSE12603 46727845 46728247 402 17209
hScc1 BcellGSE12603 46741179 46741469 290 3931
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46766312 46766681 369 14026
CTCF CD4SISSRdata 46766312 46766681 369 14026
CTCF HelaGSE12889 46766336 46766601 265 13998
CTCF G2GSE9613 46753823 46754066 243 1474
CTCF G2GSE9613 46758488 46759051 563 6299
CTCF G2GSE9613 46766249 46767091 842 14200
Fos K562GSE19551 46765937 46766994 1057 13995
Gata2 K562GSE18868 46760232 46761511 1279 8401
RARA MCF7GSE15244 46760221 46761449 1228 8365
RARA MCF7GSE15244 46765746 46766320 574 13563
hScc1 BcellGSE12603 46758656 46759188 532 6452
hScc1 BcellGSE12603 46761380 46761513 133 8976
hScc1 BcellGSE12603 46766249 46766893 644 14101
hScc1 CdLSGSE12603 46765997 46766893 896 13975
hScc1 G2GSE9613 46766213 46767055 842 14164
p130 SenescentGSE19898 46765707 46766337 630 13552
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46746247 46746719 472 0
CTCF G2GSE9613 46749286 46749582 296 0
Fos K562GSE19551 46746955 46747417 462 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