HsaINT0107698 @ hg19
Intron Retention
Gene
ENSG00000125414 | MYH2
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10432479-10432798:-
Coord C1 exon
chr17:10432653-10432798
Coord A exon
chr17:10432570-10432652
Coord C2 exon
chr17:10432479-10432569
Length
83 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
3' ss Seq
CTTTGCTACTTTTCTAAAAGGAA
3' ss Score
6.77
Exon sequences
Seq C1 exon
CTTGAAGGGTCCTTGGAGCAAGAAAAGAAACTTCGCATGGACCTAGAAAGGGCTAAGAGGAAACTTGAGGGTGACTTGAAGTTGGCCCAAGAATCCATAATGGACATTGAAAATGAGAAACAGCAACTTGATGAAAAGCTCAAAAA
Seq A exon
GTAAGTAAGAAAGAATTGCTTATGGATTTGCTTCCAACATTAGATACGGACTAAATTGTTGTCCTTTGCTACTTTTCTAAAAG
Seq C2 exon
GAAAGAGTTTGAAATCAGCAATCTGCAAAGCAAGATTGAAGATGAACAGGCACTTGGCATTCAATTGCAGAAGAAAATTAAAGAATTGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-MYH2:NM_001100112:25
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.388 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0157614=Myosin_tail_1=PD(28.1=79.6),PF0003816=Filament=FE(16.9=100),PF0157614=Myosin_tail_1=PU(1.6=28.6)
A:
NA
C2:
PF0003816=Filament=FE(10.6=100),PF0157614=Myosin_tail_1=FE(3.5=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAAGGGTCCTTGGAGCAAGA
R:
TCTTGCTTTGCAGATTGCTGA
Band lengths:
179-262
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
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)