AutismKB 2.0

Annotation Detail for MTMR12


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Basic Information Top
Gene Symbol:MTMR12 ( 3-PAP,PIP3AP )
Gene Full Name: myotubularin related protein 12
Band: 5p13.3
Quick LinksEntrez ID:54545; OMIM: 606501; Uniprot ID:MTMRC_HUMAN; ENSEMBL ID: ENSG00000150712; HGNC ID: 18191
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
572Phosphoserine.
573Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001040446
  • Location:chr5 32262868-32348870
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 32365330 32365621 291 16605
CTCF CD4SISSRdata 32365330 32365621 291 16605
CTCF G2GSE9613 32365153 32365829 676 16621
CTCF G2GSE9613 32366160 32366725 565 17572
ER MCF7GSE19013 32365487 32366397 910 17072
Fos K562GSE19551 32348706 32349404 698 185
H3ac HepG2E 32350264 32350655 391 1589
Oct1 HelaGSE14283 32352080 32352118 38 3229
Oct1 HelaGSE14283 32360447 32360481 34 11594
Oct4 hESGSE17917 32365253 32365557 304 16535
P300 T0-glioblastomaGSE21026 32348342 32349604 1262 103
Rb GrowingGSE19898 32348911 32349051 140 111
Rb SenescentGSE19898 32348884 32349173 289 158
TAF HelaGSE8489 32349058 32349284 226 301
TAF HelaGSE8489 32350345 32350791 446 1698
TAF k562GSE8489 32348889 32349284 395 216
TFAP2C MCF7GSE21234 32365215 32365564 349 16519
hScc1 BcellGSE12603 32365153 32365864 711 16638
hScc1 CdLSGSE12603 32365153 32365909 756 16661
hScc1 G2GSE9613 32365153 32365829 676 16621
p130 SenescentGSE19898 32348859 32349334 475 226
p130 shRbSenescentGSE19898 32348882 32349323 441 232
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 32250956 32251221 265 11780
Myc K562GSE19551 32246767 32247096 329 15937
TFAP2C MCF7GSE21234 32246742 32247163 421 15916
TFAP2C MCF7GSE21234 32259866 32260173 307 2849
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 32268389 32268566 177 0
CTCF CD4SISSRdata 32268389 32268566 177 0
CTCF G2GSE9613 32265559 32265724 165 0
CTCF G2GSE9613 32267664 32269367 1703 0
CTCF G2GSE9613 32287459 32287751 292 0
CTCF G2GSE9613 32329753 32330118 365 0
CTCF G2GSE9613 32336321 32336630 309 0
CTCF G2GSE9613 32347991 32349248 1257 0
ER MCF7GSE19013 32285321 32286401 1080 0
Gata2 K562GSE18868 32321219 32321824 605 0
H3K4me2 HCT116GSE10453 32347123 32347637 514 0
H3ac HepG2E 32347123 32348066 943 0
NFkBII GM12892GSE19485 32326567 32327526 959 0
NRSF mAbJurkat 32267664 32268870 1206 0
Nanog hESGSE18292 32320335 32320951 616 0
Oct1 HelaGSE14283 32295813 32295851 38 0
Oct1 HelaGSE14283 32305865 32305904 39 0
Oct1 HelaGSE14283 32331352 32331423 71 0
P300 T30-glioblastomaGSE21026 32348016 32349587 1571 0
PHF8 HeLaGSE20725 32347700 32349788 2088 0
PHF8 Hs68plusFBSGSE20725 32347778 32349222 1444 0
TAF HelaGSE8489 32347123 32347991 868 0
USF2 HepG2E 32269205 32269643 438 0
VDR GM10855-stimGSE22484 32339147 32340171 1024 0
VDR GM10855-stimGSE22484 32341400 32342851 1451 0
hScc1 BcellGSE12603 32267886 32268832 946 0
hScc1 BcellGSE12603 32347991 32349016 1025 0
hScc1 CdLSGSE12603 32267886 32268699 813 0
hScc1 CdLSGSE12603 32348414 32349284 870 0
hScc1 G2GSE9613 32267886 32269205 1319 0
hScc1 G2GSE9613 32347917 32349165 1248 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
No data
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