HsaINT0048967 @ hg19
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica-protein kinase [Source:HGNC Symbol;Acc:2933]
Coordinates
chr19:46282697-46283127:-
Coord C1 exon
chr19:46283036-46283127
Coord A exon
chr19:46282781-46283035
Coord C2 exon
chr19:46282697-46282780
Length
255 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGC
5' ss Score
9.85
3' ss Seq
TCTCACTATCTCGACCTCAGGTA
3' ss Score
8.44
Exon sequences
Seq C1 exon
CGGAGCCCATCGTGGTGAGGCTTAAGGAGGTCCGACTGCAGAGGGACGACTTCGAGATTCTGAAGGTGATCGGACGCGGGGCGTTCAGCGAG
Seq A exon
GTAAGCCGAACCGGGCGGGAGCCTGACTTGACTCGTGGTGGGCGGGGCATAGGGGTTGGGGCGGGGCCTTAGAAATTGATGAATGACCGAGCCTTAGAACCTAGGGCTGGGCTGGAGGCGGGGCTTGGGACCAATGGGCGTGGTGTGGCAGGTGGGGCGGGGCCACGGCTGGGTGCAGAAGCGGGTGGAGTTGGGTCTGGGCGAGCCCTTTTGTTTTCCCGCCGTCTCCACTCTGTCTCACTATCTCGACCTCAG
Seq C2 exon
GTAGCGGTAGTGAAGATGAAGCAGACGGGCCAGGTGTATGCCATGAAGATCATGAACAAGTGGGACATGCTGAAGAGGGGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936-DMPK:NM_004409:2
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.042 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=PU(17.1=41.9)
A:
NA
C2:
PF0006920=Pkinase=FE(10.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCATCGTGGTGAGGCTTAA
R:
CTCGCCCCTCTTCAGCATGT
Band lengths:
172-427
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)