HsaINT0107701 @ hg19
Intron Retention
Gene
ENSG00000125414 | MYH2
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10430255-10431191:-
Coord C1 exon
chr17:10431065-10431191
Coord A exon
chr17:10430374-10431064
Coord C2 exon
chr17:10430255-10430373
Length
691 bp
Sequences
Splice sites
5' ss Seq
CTGGTAACT
5' ss Score
5.45
3' ss Seq
CCATTTCTTTTGTCCATCAGGTG
3' ss Score
9.12
Exon sequences
Seq C1 exon
GGAAACCTAGAGAAAATGTGCCGGACTCTAGAGGACCAACTGAGTGAACTGAAATCAAAGGAAGAGGAGCAGCAGCGGCTGATCAATGACCTGACTGCGCAGAGGGGGCGCCTGCAGACTGAATCTG
Seq A exon
GTAACTCTCCCCTCTTCTGTGCAGCTTCAGGGTGGAGAGGATGTGATTAAGAACAACGGACTGATTTGGTGAAGTGGGAGCCTAATAAAACAGCTGAGAACATGTCTGATTCACTGAACAGCTCAGACACCTGACCTATGTGCAAGGTCATCTTGGGACAATGCTGGAGATAAAGGTTTCAATAGGACAAAATCAAGCTCTGTTCCAGAATGGCCTTGAGTATTTGCTCATTGCGAGGATGCTGGGATTAGCGGTTACTCCAGCATGAGTTCAGGGCTTCTCTTTCAGGCCAAGTTTCTCTTTATTTATATGAGGGTCAAGTAACTTCCAGAATGGGGCAATGAATATCCCAGTCTCTCAAAAGTCCTATGGAATGGGGACCCTGTAGAATTAGACATTTTAGCTTACTCATTTGACAGTCCTCACCAGATTTTGCACAATATCATATAATTCTGAAAGAATTAGTTATGGAAAGGACAAAAGGAATTTAAGCTGTATTTATTCATTCCGATTGATCTGAAAGTTTCACCATAAAAACTGAAAACCTGCATTGAGCATGAAGATGTCAGTATAGAATTCAACCATCTGAGCACTCAATTTGGGAAAATAAGAGTCAAAATTTCTTTCTAACATGGGCTTGCAGAATCTTGTTTTTCACCTAAAAAATGGTGCCATTTCTTTTGTCCATCAG
Seq C2 exon
GTGAGTTTTCACGCCAGCTTGATGAAAAGGAAGCTCTGGTGTCTCAGTTATCAAGAGGCAAACAAGCCTTTACTCAACAGATTGAAGAATTAAAGAGGCAACTTGAAGAGGAGATAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-MYH2:NM_001100112:28
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.837 A=NA C2=0.175
Domain overlap (PFAM):
C1:
PF0003816=Filament=FE(14.8=100),PF0157614=Myosin_tail_1=FE(4.9=100),PF045827=Reo_sigmaC=FE(35.3=100)
A:
NA
C2:
PF0003816=Filament=PD(4.6=32.5),PF0157614=Myosin_tail_1=FE(4.5=100),PF045827=Reo_sigmaC=PD(30.3=90.0)
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:
GGAAACCTAGAGAAAATGTGCCG
R:
TTTTATCTCCTCTTCAAGTTGCCTCT
Band lengths:
246-937
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)