Description
dystrophia myotonica-protein kinase [Source:HGNC Symbol;Acc:2933]
Gene Synonyms
DM, DM1, DM1PK, DMK, MDPK, MT-PK
Location
Chromosome 19: 46,272,975-46,285,810 reverse strand.
GRCh37:CM000681.1
About this gene
This gene has 19 transcripts (splice variants), 11 paralogues and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000600757.1 | DMPK-007 | 3357 | 635aa | ENSP00000472965.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0R333 Q59FU6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000343373.4 | DMPK-008 | 3227 | 639aa | ENSP00000345997.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46119 | E5KR08 Q09013 | NM_001081563.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000291270.4 | DMPK-004 | 2787 | 629aa | ENSP00000291270.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS12674 | E5KR06 Q09013 | NM_004409.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000447742.2 | DMPK-001 | 2754 | 624aa | ENSP00000413417.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46118 | E5KR07 Q09013 | NM_001081562.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000458663.2 | DMPK-005 | 2548 | 625aa | ENSP00000401753.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46117 | E5KR05 Q09013 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000354227.5 | DMPK-003 | 1982 | 530aa | ENSP00000346168.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q09013 | NM_001288766.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000597660.1 | DMPK-020 | 803 | 188aa | ENSP00000471832.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0R1F3 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000593574.1 | DMPK-019 | 548 | 183aa | ENSP00000469220.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000596067.1 | DMPK-012 | 498 | 125aa | ENSP00000470192.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QZ00 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000588522.1 | DMPK-002 | 2920 | 78aa | ENSP00000468013.1 | Nonsense mediated decay | K7EQX1 | - | - | |
| ENST00000595361.1 | DMPK-017 | 466 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000596920.1 | DMPK-014 | 382 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000596686.1 | DMPK-010 | 2499 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000598180.1 | DMPK-009 | 1626 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000598272.1 | DMPK-011 | 1410 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000598191.1 | DMPK-015 | 732 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000600370.1 | DMPK-018 | 723 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000599392.1 | DMPK-013 | 588 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000599002.1 | DMPK-016 | 313 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
