AutismKB 2.0

Annotation Detail for MTMR6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MTMR6 ( - )
Gene Full Name: myotubularin related protein 6
Band: 13q12.13
Quick LinksEntrez ID:9107; OMIM: 603561; Uniprot ID:MTMR6_HUMAN; ENSEMBL ID: ENSG00000139505; HGNC ID: 7453
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
108Phosphotyrosine (By similarity).
561Phosphoserine.
589Phosphoserine.
Location(AA) Modifications Resource
561Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
22N-linkedHMM predict
134Phosphotyrosine(Syk)HMM predict
233Phosphotyrosine(Jak)HMM predict
255Phosphotyrosine(INSR)HMM predict
260N-linkedHMM predict
261Phosphotyrosine(INSR)HMM predict
263N-linkedHMM predict
288N-linkedHMM predict
337Phosphoserine(ATM)HMM predict
468Phosphotyrosine(Syk)HMM predict
474Phosphoserine(CK1)HMM predict
596Phosphoserine(CK2)HMM predict
603Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004685
  • Location:chr13 24719371-24759703
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 24759493 24759929 436 8
CTCF CD4SISSRdata 24759493 24759929 436 8
Oct1 H2O2-HelaGSE14283 24761315 24761346 31 1627
Oct1 HelaGSE14283 24761315 24761349 34 1629
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 24701514 24701856 342 17687
CTCF G2GSE9613 24705135 24705571 436 14019
Fos K562GSE19551 24716332 24716651 319 2880
FoxA1 MCF7MACSdata 24706015 24706270 255 13229
hScc1 BcellGSE12603 24705135 24705680 545 13964
hScc1 CdLSGSE12603 24705135 24705643 508 13983
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 24739938 24740071 133 0
CTCF CD4SISSRdata 24739938 24740071 133 0
CTCF G2GSE9613 24758990 24759836 846 0
ER E2-MCF7GSE14664 24736968 24736999 31 0
ER Fulvestrant-MCF7GSE14664 24747610 24747644 34 0
ETS1 JurkatGSE17954 24759097 24760090 993 0
H3K4me2 HCT116GSE10453 24758694 24759123 429 0
H3K4me3 colorectalcancer 24758489 24759156 667 0
H3ac HepG2E 24758261 24759214 953 0
Oct1 HelaGSE14283 24728645 24728678 33 0
Oct1 HelaGSE14283 24733913 24733940 27 0
Oct1 HelaGSE14283 24746493 24746523 30 0
Oct1 HelaGSE14283 24747611 24747649 38 0
hScc1 BcellGSE12603 24759097 24759929 832 0
hScc1 CdLSGSE12603 24721199 24721613 414 0
hScc1 CdLSGSE12603 24739853 24740210 357 0
hScc1 CdLSGSE12603 24759248 24759836 588 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
306 Unknown MicroArray miR-124 MTMR6 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000139505 G1-to-S transition n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, non-Hodgkin's, 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved