AutismKB 2.0

Annotation Detail for MMD


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Basic Information Top
Gene Symbol:MMD ( MMA,PAQR11 )
Gene Full Name: monocyte to macrophage differentiation-associated
Band: 17q22
Quick LinksEntrez ID:23531; OMIM: 604467; Uniprot ID:PAQRB_HUMAN; ENSEMBL ID: ENSG00000108960; HGNC ID: 7153
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012329
  • Location:chr17 50824972-50854339
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 50865454 50866680 1226 11728
FOXA1 MCF7GSE15244 50865344 50866504 1160 11585
Fos K562GSE19551 50854142 50854647 505 55
FoxA1 MCF7MACSdata 50865239 50865975 736 11268
H3ac HepG2E 50865704 50866504 800 11765
LIN9 SGSE7516 50859333 50859694 361 5174
NFkBII GM12878GSE19485 50851439 50858135 6696 448
P300 T30-glioblastomaGSE21026 50865366 50866843 1477 11765
RARA MCF7GSE15244 50865344 50866504 1160 11585
RARG MCF7GSE15244 50865344 50866504 1160 11585
TFAP2C MCF7GSE21234 50868600 50868987 387 14454
USF2 HepG2E 50865559 50866471 912 11676
p130 SenescentGSE19898 50854434 50854702 268 229
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 50823030 50823102 72 1907
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 50841437 50841789 352 0
H3ac HepG2E 50850197 50851947 1750 0
H3ac HepG2E 50852180 50854045 1865 0
NRSF-mono JurkatQuESTdata 50831141 50831430 289 0
Oct1 HelaGSE14283 50838798 50838855 57 0
Oct1 HelaGSE14283 50844256 50844320 64 0
USF2 HepG2E 50839926 50841047 1121 0
hScc1 BcellGSE12603 50853167 50854077 910 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
155 Unknown MicroArray miR-1 MMD n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000108960 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "epithelium, lymphocyte, muscle cell" "malignant tumour, carcinoma, leukaemia, sarcoma"
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