HsaINT0107445 @ hg19
Intron Retention
Gene
ENSG00000109061 | MYH1
Description
myosin, heavy chain 1, skeletal muscle, adult [Source:HGNC Symbol;Acc:7567]
Coordinates
chr17:10399558-10400510:-
Coord C1 exon
chr17:10400386-10400510
Coord A exon
chr17:10399867-10400385
Coord C2 exon
chr17:10399558-10399866
Length
519 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGC
5' ss Score
9.85
3' ss Seq
CACCTCTTGCTGTCATTAAGGCA
3' ss Score
4.15
Exon sequences
Seq C1 exon
AGGAGATTTCTGATCTCACTGAACAGATTGCAGAAGGAGGAAAGCGCATCCATGAACTGGAAAAAATAAAGAAGCAAGTTGAGCAAGAAAAGTCTGAACTTCAGGCTGCCTTAGAGGAGGCAGAG
Seq A exon
GTAAGCATTTTATTGCATACTCTAAAACAATTAGAAGAGGAATTGGGGTCTATTAAATGTAAGGAATGGTGAATCAAGAGAAACGAAAAATAATTTTTGCTCCATGAACTAGGGATGAGAATGGAGAACTGATCATGCATACAACCAACATAACCATATGTCAGGAACTGTGCTACACACTGAGCAAACAAAGATGAATCAGTTAAAGGCCCTGCTTTCAAGGGCACAATCTACCTAGGGAGATAAAAGCATATAAAATCAACAATAACATTCAATAATTTGTAGAAATGTCTAAAACAACAAAATAAAAATGTATGATGGCAGCACAAAGGCAGACAGTGTGTGTGTTAGAGAATAGCAAGAAAATGCAAAGGCATGAAAATGACACTCTTGTTTAAATCTTACTACTACTTAGAAATCTATTTATAAATAAGGTTTCATGAATGATAAATCATTCTTATCTCTAGAATACTACACACTTCCATTACTCTACTAATGTCACCTCTTGCTGTCATTAAG
Seq C2 exon
GCATCTCTTGAACATGAAGAGGGAAAGATCCTGCGCATCCAGCTTGAGTTGAACCAAGTCAAGTCTGAGGTTGATAGGAAAATTGCTGAAAAAGATGAGGAAATTGACCAGATGAAGAGAAACCACATTAGAATCGTGGAGTCCATGCAGAGCACACTGGATGCTGAGATCAGGAGCAGGAATGATGCCATTAGGCTCAAGAAGAAGATGGAGGGAGACCTCAATGAAATGGAAATCCAGCTGAACCATGCCAACCGCATGGCTGCTGAGGCCCTGAGGAACTATAGGAACACCCAAGCCATCCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109061-MYH1:NM_005963:33
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.329 A=NA C2=0.340
Domain overlap (PFAM):
C1:
PF0157614=Myosin_tail_1=FE(4.8=100),PF0003816=Filament=FE(14.6=100),PF045827=Reo_sigmaC=PD(24.5=83.3)
A:
NA
C2:
PF0157614=Myosin_tail_1=FE(11.9=100),PF0003816=Filament=PD(10.4=28.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGGAAAGCGCATCCATGAA
R:
GTTGGCATGGTTCAGCTGGAT
Band lengths:
345-864
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)