HsaINT0048963 @ hg38
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica protein kinase [Source:HGNC Symbol;Acc:HGNC:2933]
Coordinates
chr19:45771771-45772752:-
Coord C1 exon
chr19:45772641-45772752
Coord A exon
chr19:45771929-45772640
Coord C2 exon
chr19:45771771-45771928
Length
712 bp
Sequences
Splice sites
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
3' ss Seq
AGCCTGGTCCCCATACACAGGCT
3' ss Score
4.68
Exon sequences
Seq C1 exon
GGACAGTGAGGTCCCAGGCCCCACACCCATGGAACTGGAGGCCGAGCAGCTGCTTGAGCCACACGTGCAAGCGCCCAGCCTGGAGCCCTCGGTGTCCCCACAGGATGAAACA
Seq A exon
GTAAGTTGGTGGAGGGGAGGGGGTCCGTCAGGGACAATTGGGAGAGAAAAGGTGAGGGCTTCCCGGGTGGCGTGCACTGTAGAGCCCTCTAGGGACTTCCTGAACAGAAGCAGACAGAAACCACGGAGAGACGAGGTTACTTCAGACATGGGACGGTCTCTGTAGTTACAGTGGGGCATTAAGTAAGGGTGTGTGTGTTGCTGGGGATCTGAGAAGTCGATCTTTGAGCTGAGCGCTGGTGAAGGAGAAACAAGCCATGGAAGGAAAGGTGCCAAGTGGTCAGGCGAGAGCCTCCAGGGCAAAGGCCTTGGGCAGGTGGGAATCCTGATTTGTTCCTGAAAGGTAGTTTGGCTGAATCATTCCTGAGAAGGCTGGAGAGGCCAGCAGGAAACAAAACCCAGCAAGGCCTTTTGTCGTGAGGGCATTAGGGAGCTGGAGGGATTTTGAGCAGCAGAGGGACATAGGTTGTGTTAGTGTTTGAGCACCAGCCCTCTGGTCCCTGTGTAGATTTAGAGGACCAGACTCAGGGATGGGGCTGAGGGAGGTAGGGAAGGGAGGGGGCTTGGATCATTGCAGGAGCTATGGGGATTCCAGAAATGTTGAGGGGACGGAGGAGTAGGGGATAAACAAGGATTCCTAGCCTGGAACCAGTGCCCAAGTCCTGAGTCTTCCAGGAGCCACAGGCAGCCTTAAGCCTGGTCCCCATACACAG
Seq C2 exon
GCTGAAGTGGCAGTTCCAGCGGCTGTCCCTGCGGCAGAGGCTGAGGCCGAGGTGACGCTGCGGGAGCTCCAGGAAGCCCTGGAGGAGGAGGTGCTCACCCGGCAGAGCCTGAGCCGGGAGATGGAGGCCATCCGCACGGACAACCAGAACTTCGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936:ENST00000447742:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.946 A=NA C2=0.953
Domain overlap (PFAM):
C1:
PF041569=IncA=PU(15.2=66.7),PF0157614=Myosin_tail_1=PU(8.4=33.3),PF0126119=AP_endonuc_2=PU(0.8=4.2)
A:
NA
C2:
PF041569=IncA=FE(49.5=100),PF0157614=Myosin_tail_1=FE(54.7=100),PF0126119=AP_endonuc_2=FE(44.1=100),PF139491=ALIX_LYPXL_bnd=PU(44.4=83.0),PF032458=Phage_lysis=PU(40.0=79.2),PF088265=DMPK_coil=PU(50.8=58.5)
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:
GACAGTGAGGTCCCAGGCC
R:
CTGGCGAAGTTCTGGTTGTCC
Band lengths:
269-981
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