HsaINT0048972 @ hg38
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica protein kinase [Source:HGNC Symbol;Acc:HGNC:2933]
Coordinates
chr19:45774949-45777590:-
Coord C1 exon
chr19:45777342-45777590
Coord A exon
chr19:45775035-45777341
Coord C2 exon
chr19:45774949-45775034
Length
2307 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
3' ss Seq
CATCTGTGTGTCTTGCGCAGGAG
3' ss Score
9.75
Exon sequences
Seq C1 exon
GAGCACCTCTCTCTGCCGCTGGTGGACGAAGGGGTCCCTGAGGAGGCTCGAGACTTCATTCAGCGGTTGCTGTGTCCCCCGGAGACACGGCTGGGCCGGGGTGGAGCAGGCGACTTCCGGACACATCCCTTCTTCTTTGGCCTCGACTGGGATGGTCTCCGGGACAGCGTGCCCCCCTTTACACCGGATTTCGAAGGTGCCACCGACACATGCAACTTCGACTTGGTGGAGGACGGGCTCACTGCCATG
Seq A exon
GTGAGCGGGGGCGGGGTAGGTACCTGTGGCCCCTGCTCGGCTGCGGGAACCTCCCCATGCTCCCTCCATAAAGTTGGAGTAAGGACAGTGCCTACCTTCTGGGGTCCTGAATCACTCATTCCCCAGAGCACCTGCTCTGTGCCCATCTACTACTGAGGACCCAGCAGTGACCTAGACTTACAGTCCAGTGGGGGAACACAGAGCAGTCTTCAGACAGTAAGGCCCCAGAGTGATCAGGGCTGAGACAATGGAGTGCAGGGGGTGGGGGACTCCTGACTCAGCAAGGAAGGTCCTGGAGGGCTTTCTGGAGTGGGGAGCTATCTGAGCTGAGACTTGGAGGGATGAGAAGCAGGAGAGGACTCCTCCTCCCTTAGGCCGTCTCTCTTCACCGTGTAACAAGCTGTCATGGCATGCTTGCTCGGCTCTGGGTGCCCTTTTGCTGAACAATACTGGGGATCCAGCACGGACCAGATGAGCTCTGGTCCCTGCCCTCATCCAGTTGCAGTCTAGAGAATTAGAGAATTATGGAGAGTGTGGCAGGTGCCCTGAAGGGAAGCAACAGGATACAAGAAAAAATGATGGGGCCAGGCACGGTGGCTCACGCCTGTAACCCCAGCAATTTGGCAGGCCGAAGTGGGTGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAATGTGGTGAGACCCCCGTCTCTACAAAAATGTTTTAAAAATTGGTTGGGCGTGGTGGCGCATGCCTGTATACTCAGCTACTAGGGTGGCCGACGTGGGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGCAACGGAGAGAGACTCTGTCTCAAAAATAAGATAAACTGAAATTAAAAAATAGGCTGGGCTGGCCGGGCGTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTCCTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAATAGGCTGGACCGCGGCCGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCAAGGCCGGTGGGTCATGAGATCAGGAGTTTTGAGACTAGGCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAGAAAATTAGCTGGGTGTGGTCTCGGGTGCCTGTAATTCCAGTTACTGGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCCAAGATCATGCCACTACACTCCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGGGTTGGGCAAGGTGGTTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCAGGCAGATCACTGGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAATTTAGCCAGGCTTGGTGGCGTATGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGATTGAACCTGGGAGGCAGAGTTTGCAGTGGGCTGGGGTTGTGCCACTGCACTCTAGGCTGGGAGACAGCAAGACTCCATCTAAAAAAAAAAAACAGAACTGGGCTGGGCACAGTGGCTTATATTTGTAATCCCAGCACTTTGGGAGGCTGAGGTTGGAGGACTGCTTGAGCCCAGAGTTTGGGACTACAACAGCTGAGGTAGGCGGATCACTTGAGGTCAGAAGATGGAGACCAGCCTGGCCAGCGTGGCGAAACCCCGTCTCTACCAAAAATATAAAAAATTAGCCAGGCGTGGTAGAGGGCGCCTGTAATCTCAGCTACTCAGGACGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTAACAGAGCGAGACTCCGTATCAAAGAAAAAGAAAAAAGAAAAAATGCTGGAGGGGCCACTTTAGATAAGCCCTGAGTTGGGGCTGGTTTGGGGGGAACATGTAAGCCAAGATCAAAAAGCAGTGAGGGGCCCGCCCTGACGACTGCTGCTCACATCTGTGTGTCTTGCGCAG
Seq C2 exon
GAGACACTGTCGGACATTCGGGAAGGTGCGCCGCTAGGGGTCCACCTGCCTTTTGTGGGCTACTCCTACTCCTGCATGGCCCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936:ENST00000447742:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.075 A=NA C2=0.188
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=PD(16.4=53.0)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
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
- Autistic and control brains
- Pre-implantation embryo development