HsaINT1047967 @ hg38
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica protein kinase [Source:HGNC Symbol;Acc:HGNC:2933]
Coordinates
chr19:45779778-45782479:-
Coord C1 exon
chr19:45782193-45782479
Coord A exon
chr19:45779870-45782192
Coord C2 exon
chr19:45779778-45779869
Length
2323 bp
Sequences
Splice sites
5' ss Seq
GGGGTGAGT
5' ss Score
7.93
3' ss Seq
TTCCCCCACCACCCCCCCAGCGG
3' ss Score
6.62
Exon sequences
Seq C1 exon
GGGGACAGCCAGGGACAGGCAGACATGCAGCCAGGGCTCCAGGGCCTGGACAGGGGCTGCCAGGCCCTGTGACAGGAGGACCCCGAGCCCCCGGCCCGGGGAGGGGCCATGGTGCTGCCTGTCCAACATGTCAGCCGAGGTGCGGCTGAGGCGGCTCCAGCAGCTGGTGTTGGACCCGGGCTTCCTGGGGCTGGAGCCCCTGCTCGACCTTCTCCTGGGCGTCCACCAGGAGCTGGGCGCCTCCGAACTGGCCCAGGACAAGTACGTGGCCGACTTCTTGCAGTGGG
Seq A exon
GTGAGTGCCTACCCTCGGGGCTCCTGCAGATGGGGTGGGGGTGGGGCAGGAGACAGGTCTGGGCACAGAGGCCTGGCTGTTGGGGGGGCAGGATGGCAGGATGGGCATGGGGAGATCCTCCCATCCTGGGGCTCAGAGTGTGGACCTGGGCCCTGGGGCAACATTTCTCTGTCCTATGCCACCACTCTGGAGGGGCAGAGTAAGGTCAGCAGAGGCTAGGGTGGCTGTGACTCAGAGCCATGGCTTAGGAGTCACAGCAGGCTAGGCTGCCAACAGCCTCCCATGGCCTCTCTGCACCCCGCCTCAGGGTCAGGGTCAGGGTCATGCTGGGAGCTCCCTCTCCTAGGACCCTCCCCCCAAAAGTGGGCTCTATGGCCCTCTCCCCTGGTTTCCTGTGGCCTGGGGCAAGCCAGGAGGGCCAGCATGGGGCAGCTGCCAGGGGCGCAGCCGACAGGCAGGTGTTCGGCGCCAGCCTCTCCAGCTGCCCCAACAGGTGCCCAGGCACTGGGAGGGCGGTGACTCACGCGGGCCCTGTGGGAGAACCAGCTTTGCAGACAGGCGCCACCAGTGCCCCCTCCTCTGCGATCCAGGAGGGACAACTTTGGGTTCTTCTGGGTGTGTCTCCTTCTTTTGTAGGTTCTGCACCCACCCCCACCCCCAGCCCCAAAGTCTCGGTTCCTATGAGCCGTGTGGGTCAGCCACCATTCCCGCCACCCCGGGTCCCTGCGTCCTTTAGTTCTCCTGGCCCAGGGCCTCCAACCTTCCAGCTGTCCCACAAAACCCCTTCTTGCAAGGGCTTTCCAGGGCCTGGGGCCAGGGCTGGAAGGAGGATGCTTCCGCTTCTGCCAGCTGCCTTGTCTGCCCACCTCCTCCCCAAGCCCAGGACTCGGGCTCACTGGTCACTGGTTTCTTTCATTCCCAGCACCCTGCCCCTCTGGCCCTCATATGTCTGGCCCTCAGTGACTGGTGTTTGGTTTTTGGCCTGTGTGTAACAAACTGTGTGTGACACTTGTTTCCTGTTTCTCCGCCTTCCCCTGCTTCCTCTTGTGTCCATCTCTTTCTGACCCAGGCCTGGTTCCTTTCCCTCCTCCTCCCATTTCACAGATGGGAAGGTGGAGGCCAAGAAGGGCCAGGCCATTCAGCCTCTGGAAAAACCTTCTCCCAACCTCCCACAGCCCCTAATGACTCTCCTGGCCTCCCTTTAGTAGAGGATGAAGTTGGGTTGGCAGGGTAAACTGAGACCGGGTGGGGTAGGGGTCTGGCGCTCCCGGGAGGAGCACTCCTTTTGTGGCCCGAGCTGCATCTCGCGGCCCCTCCCCTGCCAGGCCTGGGGCGGGGGAGGGGGCCAGGGTTCCTGCTGCCTTAAAAGGGCTCAATGTCTTGGCTCTCTCCTCCCTCCCCCGTCCTCAGCCCTGGCTGGTTCGTCCCTGCTGGCCCACTCTCCCGGAACCCCCCGGAACCCCTCTCTTTCCTCCAGAACCCACTGTCTCCTCTCCTTCCCTCCCCTCCCATACCCATCCCTCTCTCCATCCTGCCTCCACTTCTTCCACCCCCGGGAGTCCAGGCCTCCCTGTCCCCACAGTCCCTGAGCCACAAGCCTCCACCCCAGCTGGTCCCCCACCCAGGCTGCCCAGTTTAACATTCCTAGTCATAGGACCTTGACTTCTGAGAGGCCTGATTGTCATCTGTAAATAAGGGGTAGGACTAAAGCACTCCTCCTGGAGGACTGAGAGATGGGCTGGACCGGAGCACTTGAGTCTGGGATATGTGACCATGCTACCTTTGTCTCCCTGTCCTGTTCCTTCCCCCAGCCCCAAATCCAGGGTTTTCCAAAGTGTGGTTCAAGAACCACCTGCATCTGAATCTAGAGGTACTGGATACAACCCCACGTCTGGGCCGTTACCCAGGACATTCTACATGAGAACGTGGGGGTGGGGCCCTGGCTGCACCTGAACTGTCACCTGGAGTCAGGGTGGAAGGTGGAAGAACTGGGTCTTATTTCCTTCTCCCCTTGTTCTTTAGGGTCTGTCCTTCTGCAGACTCCGTTACCCCACCCTAACCATCCTGCACACCCTTGGAGCCCTCTGGGCCAATGCCCTGTCCCGCAAAGGGCTTCTCAGGCATCTCACCTCTATGGGAGGGCATTTTTGGCCCCCAGAACCTTACACGGTGTTTATGTGGGGAAGCCCCTGGGAAGCAGACAGTCCTAGGGTGAAGCTGAGAGGCAGAGAGAAGGGGAGACAGACAGAGGGTGGGGCTTTCCCCCTTGTCTCCAGTGCCCTTTCTGGTGACCCTCGGTTCTTTTCCCCCACCACCCCCCCAG
Seq C2 exon
CGGAGCCCATCGTGGTGAGGCTTAAGGAGGTCCGACTGCAGAGGGACGACTTCGAGATTCTGAAGGTGATCGGACGCGGGGCGTTCAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936:ENST00000447742:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.032
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0006920=Pkinase=PU(17.1=41.9)
Main Inclusion Isoform:
NA
Associated events
Conservation
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