AutismKB 2.0

Annotation Detail for DMPK


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Basic Information Top
Gene Symbol:DMPK ( DM,DM1,DM1PK,DMK,MDPK,MT-PK )
Gene Full Name: dystrophia myotonica-protein kinase
Band: 19q13.32
Quick LinksEntrez ID:1760; OMIM: 605377; Uniprot ID:DMPK_HUMAN; ENSEMBL ID: ENSG00000104936; HGNC ID: 2933
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
226Phosphoserine; by autocatalysis (By
238Phosphoserine; by autocatalysis (By
244Phosphothreonine; by autocatalysis (By
Location(AA) Modifications Resource
226Phosphoserine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
238Phosphoserine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
244Phosphothreonine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
Location(AA) Modification Resource
11Phosphotyrosine(Syk)HMM predict
11Phosphotyrosine(Abl)HMM predict
24Phosphoserine(CDC2)HMM predict
47O-linkedHMM predict
58Phosphoserine(CDC2)HMM predict
60O-linkedHMM predict
61Phosphothreonine(MAPK)HMM predict
235Phosphothreonine(PKC)HMM predict
247Phosphotyrosine(Jak)HMM predict
247Phosphotyrosine(INSR)HMM predict
413Phosphotyrosine(Jak)HMM predict
429Phosphothreonine(MAPK)HMM predict
447O-linkedHMM predict
453Phosphoserine(ATM)HMM predict
477Phosphothreonine(PKC)HMM predict
546O-linkedHMM predict
550O-linkedHMM predict
550Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004409
  • Location:chr19 50964815-50977575
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 50964048 50965569 1521 7
p130 QuiescentGSE19898 50964558 50964811 253 131
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50965337 50965539 202 0
CTCF CD4GSE12889 50974303 50974676 373 0
CTCF CD4SISSRdata 50965337 50965539 202 0
CTCF CD4SISSRdata 50974303 50974676 373 0
CTCF G2GSE9613 50965073 50965535 462 0
CTCF G2GSE9613 50974058 50974759 701 0
ER Breast-CancerGSE22609 50976677 50977245 568 0
ER MCF7GSE19013 50976812 50977318 506 0
FOXA1 MCF7GSE15244 50975246 50975848 602 0
FoxA1 MCF7MACSdata 50975450 50975676 226 0
H3ac HepG2E 50973982 50974384 402 0
Rb shRbQuiescentGSE19898 50965869 50966015 146 0
TFAP2C MCF7GSE21234 50976150 50977420 1270 0
VDR GM10855-UnstimGSE22484 50963290 50966598 3308 0
VDR GM10861-stimGSE22484 50963710 50968000 4290 0
hScc1 BcellGSE12603 50972723 50973192 469 0
hScc1 BcellGSE12603 50974088 50974719 631 0
hScc1 CdLSGSE12603 50964750 50965746 996 0
p130 SenescentGSE19898 50965596 50966194 598 0
p130 shRbSenescentGSE19898 50965564 50965992 428 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 21169019
hsa-miR-1 hsa-mir-1-1 20 21169019
hsa-miR-1 hsa-mir-1-2 18 20487562
hsa-miR-1 hsa-mir-1-1 20 20487562
hsa-miR-103 hsa-mir-103-2 20 20487562
hsa-miR-103 hsa-mir-103-1 5 20487562
hsa-miR-107 hsa-mir-107 10 20487562
hsa-miR-133a hsa-mir-133a-1 18 20487562
hsa-miR-133a hsa-mir-133a-2 20 20487562
hsa-miR-133b hsa-mir-133b 6 21169019
hsa-miR-133b hsa-mir-133b 6 20487562
hsa-miR-181a hsa-mir-181a-2 9 20487562
hsa-miR-181a hsa-mir-181a-1 1 20487562
hsa-miR-181a* hsa-mir-181a-1 1 20487562
hsa-miR-181a-2* hsa-mir-181a-2 9 20487562
hsa-miR-181b hsa-mir-181b-1 1 20487562
hsa-miR-181b hsa-mir-181b-2 9 20487562
hsa-miR-181c hsa-mir-181c 19 20487562
hsa-miR-181c* hsa-mir-181c 19 20487562
hsa-miR-181d hsa-mir-181d 19 20487562
hsa-miR-206 hsa-mir-206 6 21169019
hsa-miR-206 hsa-mir-206 6 20487562
hsa-miR-29a hsa-mir-29a 7 21169019
hsa-miR-29a* hsa-mir-29a 7 21169019
hsa-miR-29b hsa-mir-29b-1 7 21169019
hsa-miR-29b hsa-mir-29b-2 1 21169019
hsa-miR-29b-1* hsa-mir-29b-1 7 21169019
hsa-miR-29b-2* hsa-mir-29b-2 1 21169019
hsa-miR-29c hsa-mir-29c 1 21169019
hsa-miR-29c* hsa-mir-29c 1 21169019
hsa-miR-335 hsa-mir-335 7 21169019
hsa-miR-335* hsa-mir-335 7 21169019
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
13361 EST chr19 50966088 50967602 168 mRNA DMPK chr19 50964815 50977576Sense/Antisense (SA) pairs

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