HsaINT0107700 @ hg19
Intron Retention
Gene
ENSG00000125414 | MYH2
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10431065-10432396:-
Coord C1 exon
chr17:10432007-10432396
Coord A exon
chr17:10431192-10432006
Coord C2 exon
chr17:10431065-10431191
Length
815 bp
Sequences
Splice sites
5' ss Seq
AAGGTACTA
5' ss Score
7.52
3' ss Seq
TTTTACTTTTTCTTCTATAGGGA
3' ss Score
11.85
Exon sequences
Seq C1 exon
GCCCGCATTGAGGAGCTGGAGGAGGAAATCGAGGCAGAGCGGGCCTCCCGGGCCAAAGCAGAGAAGCAGCGCTCTGACCTCTCCCGGGAGCTGGAGGAGATCAGCGAGAGGCTGGAAGAAGCCGGTGGGGCCACTTCAGCCCAGATTGAGATGAACAAGAAGCGGGAGGCTGAGTTCCAGAAAATGCGCAGGGACCTGGAGGAGGCCACCCTACAGCATGAAGCCACAGCGGCCACCCTGAGGAAGAAGCATGCAGATAGTGTGGCCGAGCTTGGGGAGCAGATTGACAACCTGCAGCGAGTGAAGCAGAAGCTGGAGAAGGAGAAGAGTGAGATGAAGATGGAGATTGATGACCTTGCTAGTAATGTAGAAACGGTCTCCAAAGCCAAG
Seq A exon
GTACTACAAATTCTGGGAAATTGTTATTGAAAATAATGCATTATGGACACATCATAGTTTGCACAGGGCACTTTTTACACATTAAGTCATTTGTTAACTGCAGTAATTCAGGGAAGTAAGCACAAAAAATCAGCATTTTTTATTATTTCAACTTAACAAATAAAGGATCAGAAATTCAAAGAGGCCAAGCACTTTGACCCATCACGCCATTAATAAACGACAACACCAGCTTTTGAACATAAGCCATCTGTGTTCTCCAAGTCTCCAGTTATAGAACAAAGGTCTCCAATTATTTCAAGGAAATTGAAATAAGGAAAGTTTCATCGTACATAAAGGCAATGAAGTATTTTAGAACATGCTTTTAGAAAATGTACACTATACAATTCTAACAAAATCTTAAAATTAGAATATAACCTTAACATTTTCATATTAATATTGAACAGAGCTCCATGATTAGCTTTCATAAAATATAAGAAAAGTCAACCAAGTGTGGTGGCGCGCGCCTGCAGTCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGTCGAGATCACGCCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAAAATTTTTCTGCATTACATTACATATAAGATAATTTGGTTTCTTTTCTATATTAAGATAAATATTGTATTTTTTATTTTGGGGAGAAGTTACAGTAACTGCAAAGGTGATTATTATTCGCTTAAAAGGTCTCTGTTTTCTTCTTTTACTTTTTCTTCTATAG
Seq C2 exon
GGAAACCTAGAGAAAATGTGCCGGACTCTAGAGGACCAACTGAGTGAACTGAAATCAAAGGAAGAGGAGCAGCAGCGGCTGATCAATGACCTGACTGCGCAGAGGGGGCGCCTGCAGACTGAATCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-MYH2:NM_001100112:27
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.892 A=NA C2=0.837
Domain overlap (PFAM):
C1:
PF0003816=Filament=FE(45.4=100),PF0157614=Myosin_tail_1=FE(15.0=100),PF045827=Reo_sigmaC=PU(32.8=30.0)
A:
NA
C2:
PF0003816=Filament=FE(14.8=100),PF0157614=Myosin_tail_1=FE(4.9=100),PF045827=Reo_sigmaC=FE(35.3=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:
GATGAACAAGAAGCGGGAGGC
R:
TGCGCAGTCAGGTCATTGATC
Band lengths:
342-1157
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)