HsaINT0048970 @ hg38
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica protein kinase [Source:HGNC Symbol;Acc:HGNC:2933]
Coordinates
chr19:45778127-45778641:-
Coord C1 exon
chr19:45778493-45778641
Coord A exon
chr19:45778221-45778492
Coord C2 exon
chr19:45778127-45778220
Length
272 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
3' ss Seq
TTCTCTTTTCCTCCGTGCAGGGA
3' ss Score
11.04
Exon sequences
Seq C1 exon
TACCTGGTCATGGAGTATTACGTGGGCGGGGACCTGCTGACACTGCTGAGCAAGTTTGGGGAGCGGATTCCGGCCGAGATGGCGCGCTTCTACCTGGCGGAGATTGTCATGGCCATAGACTCGGTGCACCGGCTTGGCTACGTGCACAG
Seq A exon
GTGGGTGCAGCATGGCCGAGGGGATAGCAAGCTTGTTCCCTGGCCGGGTTCTTGGAAGGTCAGAGCCCAGAGAGGCCAGGGCCTGGAGAGGGACCTTCTTGGTTGGGGCCCACCGGGGGGTGCCTGGGAGTAGGGGTCAGAACTGTAGAAGCCCTACAGGGGCGGAACCCGAGGAAGTGGGGTCCCAGGTGGCACTGCCCGGAGGGGCGGAGCCTGGTGGGACCACAGAAGGGAGGTTCATTTATCCCACCCTTCTCTTTTCCTCCGTGCAG
Seq C2 exon
GGACATCAAACCCGACAACATCCTGCTGGACCGCTGTGGCCACATCCGCCTGGCCGACTTCGGCTCTTGCCTCAAGCTGCGGGCAGATGGAACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936:ENST00000447742:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=FE(18.2=100)
A:
NA
C2:
PF0006920=Pkinase=FE(11.5=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCATGGAGTATTACGTGGGCG
R:
CGTTCCATCTGCCCGCAG
Band lengths:
236-508
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development