HsaINT0048966 @ hg19
Intron Retention
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica-protein kinase [Source:HGNC Symbol;Acc:2933]
Coordinates
chr19:46274229-46274654:-
Coord C1 exon
chr19:46274608-46274654
Coord A exon
chr19:46274319-46274607
Coord C2 exon
chr19:46274229-46274318
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-DMPK:NM_004409:13
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.644
Domain overlap (PFAM):
C1:
PF041569=IncA=PD(0.9=6.2),PF0126119=AP_endonuc_2=FE(12.9=100),PF032458=Phage_lysis=FE(14.7=100),PF139491=ALIX_LYPXL_bnd=FE(16.0=100)
A:
NA
C2:
PF0126119=AP_endonuc_2=PD(10.3=41.4),PF032458=Phage_lysis=PD(9.8=34.5),PF139491=ALIX_LYPXL_bnd=PD(2.1=6.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)