HsaINT0048971 @ hg38
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica protein kinase [Source:HGNC Symbol;Acc:HGNC:2933]
Coordinates
chr19:45777667-45778220:-
Coord C1 exon
chr19:45778127-45778220
Coord A exon
chr19:45777874-45778126
Coord C2 exon
chr19:45777667-45777873
Length
253 bp
Sequences
Splice sites
5' ss Seq
ACGGTGAGC
5' ss Score
9.44
3' ss Seq
CTCTGCTCCTTTTGGTCCAGGTG
3' ss Score
9.24
Exon sequences
Seq C1 exon
GGACATCAAACCCGACAACATCCTGCTGGACCGCTGTGGCCACATCCGCCTGGCCGACTTCGGCTCTTGCCTCAAGCTGCGGGCAGATGGAACG
Seq A exon
GTGAGCCAGTGCCCTGGCCACAGAGCAACTGGGGCTGCTGATGAGGGATGGAAGGCACAGAGTGTGGGAGCGGGACTGGATTTGGAGGGGAAAAGAGGTGGTGTGACCCAGGCTTAAGTGTGCATCTGTGTGGCGGAGTATTAGACCAGGCAGAGGGAGGGGCTAAGCATTTGGGGAGTGGTTGGAAGGAGGGCCCAGAGCTGGTGGGCCCAGAGGGGTGGGCCCAAGCCTCGCTCTGCTCCTTTTGGTCCAG
Seq C2 exon
GTGCGGTCGCTGGTGGCTGTGGGCACCCCAGACTACCTGTCCCCCGAGATCCTGCAGGCTGTGGGCGGTGGGCCTGGGACAGGCAGCTACGGGCCCGAGTGTGACTGGTGGGCGCTGGGTGTATTCGCCTATGAAATGTTCTATGGGCAGACGCCCTTCTACGCGGATTCCACGGCGGAGACCTATGGCAAGATCGTCCACTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936:ENST00000447742:6
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(11.5=100)
A:
NA
C2:
PF0006920=Pkinase=FE(25.3=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:
TCAAACCCGACAACATCCTGC
R:
TTGTAGTGGACGATCTTGCCA
Band lengths:
295-548
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