HsaEX0019990 @ hg19
Exon Skipping
Gene
ENSG00000104936 | DMPK
Description
dystrophia myotonica-protein kinase [Source:HGNC Symbol;Acc:2933]
Coordinates
chr19:46272975-46274654:-
Coord C1 exon
chr19:46274608-46274654
Coord A exon
chr19:46274229-46274318
Coord C2 exon
chr19:46272975-46273898
Length
90 bp
Sequences
Splice sites
3' ss Seq
CCTGTCCCTTCTCTCTCCAGCTA
3' ss Score
12.23
5' ss Seq
AGGGTACGT
5' ss Score
9.15
Exon sequences
Seq C1 exon
CTGTCACGGGGGTCCCCAGTCCCCGGGCCACGGATCCACCTTCCCAT
Seq A exon
CTAGATGGCCCCCCGGCCGTGGCTGTGGGCCAGTGCCCGCTGGTGGGGCCAGGCCCCATGCACCGCCGCCACCTGCTGCTCCCTGCCAGG
Seq C2 exon
GTCCCTAGGCCTGGCCTATCGGAGGCGCTTTCCCTGCTCCTGTTCGCCGTTGTTCTGTCTCGTGCCGCCGCCCTGGGCTGCATTGGGTTGGTGGCCCACGCCGGCCAACTCACCGCAGTCTGGCGCCGCCCAGGAGCCGCCCGCGCTCCCTGAACCCTAGAACTGTCTTCGACTCCGGGGCCCCGTTGGAAGACTGAGTGCCCGGGGCACGGCACAGAAGCCGCGCCCACCGCCTGCCAGTTCACAACCGCTCCGAGCGTGGGTCTCCGCCCAGCTCCAGTCCTGTGATCCGGGCCCGCCCCCTAGCGGCCGGGGAGGGAGGGGCCGGGTCCGCGGCCGGCGAACGGGGCTCGAAGGGTCCTTGTAGCCGGGAATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGGGGGATCACAGACCATTTCTTTCTTTCGGCCAGGCTGAGGCCCTGACGTGGATGGGCAAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000104936-'16-21,'16-17,19-21
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.644 C2=0.069
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:
PF0126119=AP_endonuc_2=FE(16.4=100),PF139491=ALIX_LYPXL_bnd=PD(7.1=23.3)
C2:
PF0126119=AP_endonuc_2=PD(24.3=84.3)
Other Inclusion Isoforms:
Other Skipping 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:
CCACGGATCCACCTTCCCAT
R:
TTCTAGGGTTCAGGGAGCGC
Band lengths:
182-272
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- 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)