HsaINT0048966 @ hg38
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica protein kinase [Source:HGNC Symbol;Acc:HGNC:2933]
Coordinates
chr19:45770971-45771396:-
Coord C1 exon
chr19:45771350-45771396
Coord A exon
chr19:45771061-45771349
Coord C2 exon
chr19:45770971-45771060
Length
289 bp
Sequences
Splice sites
5' ss Seq
CATGTAAGA
5' ss Score
5.58
3' ss Seq
CCTGTCCCTTCTCTCTCCAGCTA
3' ss Score
12.23
Exon sequences
Seq C1 exon
CTGTCACGGGGGTCCCCAGTCCCCGGGCCACGGATCCACCTTCCCAT
Seq A exon
GTAAGACCCCTCTCTTTCCCCTGCCTCAGACCTGCTGCCCATTCTGCAGATCCCCTCCCTGGCTCCTGGTCTCCCCGTCCAGATATAGGGCTCACCCTACGTCTTTGCGACTTTAGAGGGCAGAAGCCCTTTATTCAGCCCCAGATCTCCCTCCGTTCAGGCCTCACCAGATTCCCTCCGGGATCTCCCTAGATAACCTCCCCAACCTCGATTCCCCTCGCTGTCTCTCGCCCCACCGCTGAGGGCTGGGCTGGGCTCCGATCGGGTCACCTGTCCCTTCTCTCTCCAG
Seq C2 exon
CTAGATGGCCCCCCGGCCGTGGCTGTGGGCCAGTGCCCGCTGGTGGGGCCAGGCCCCATGCACCGCCGCCACCTGCTGCTCCCTGCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936:ENST00000447742:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.932 A=NA C2=0.546
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development