HsaINT0107439 @ hg19
Intron Retention
Gene
ENSG00000109061 | MYH1
Description
myosin, heavy chain 1, skeletal muscle, adult [Source:HGNC Symbol;Acc:7567]
Coordinates
chr17:10402291-10404069:-
Coord C1 exon
chr17:10403943-10404069
Coord A exon
chr17:10402410-10403942
Coord C2 exon
chr17:10402291-10402409
Length
1533 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
3' ss Seq
CTGGACTTGGTCTTTTACAGGTG
3' ss Score
9.46
Exon sequences
Seq C1 exon
GGAAACCTTGAAAAGATGTGCCGCGCTCTAGAAGATCAACTGAGTGAAATTAAGACCAAGGAAGAGGAGCAGCAGCGGCTGATCAATGACCTCACAGCACAGAGAGCGCGCCTGCAAACAGAATCAG
Seq A exon
GTGGGCCATGTACCAGTACTGACCTTGAATGACAAATTCACCCTGCATGTGTAATCCACTGAAAAACTCTGCATTTATTTACTTGAGGTCATATACTACCTCCCTGGGAGATCCCCACTAATATGAACACATTATTGACCACTGGCATGAGGTTGCTTTCTTTCATATATATACGAGAGAAATATATGTGTATATATATGAAACATATATATCCATATATATATTTGTATATATATCCATACATACATATATATATATATATAAAGAGAGAGAGAGAGATAAATAGAATCAGGCCCTTCTATTTTTGAAGACTTTAAGGGAGACTTGGCTTTAATCAAAAAGTTATCAAAAACAAAGTGCATCCTTACAGTACCTCTTTTCACTTTTCAAAATGCTTTCGCAAGCTATGTGTTACTTTATTTTCCTCATTAGTCTGTGTAATACTATCCCCATTTTAAAGACAGTGGATTATGGTAGTGATGAAGCAACTTGTCCAAGAATGTTTACTCCAGTCTTTTTCCTGAAGTCTTGCCAATTACTGGTAACTAACACGGTTAAGTAGGGAAATATTCAAGACCACAACCCAGCTGAGAAGCATTCAAGTAAGATTTGTAGATTTTTGATTAGAGAAATTGGAAAGTCTCTGCATTTATTCCCCCTCCTACTGACGTGTCCAACTTTCTACCAGAGTTGTATCTCCCCAGGTAGAGGTAACAAAATGGAAATTGTTTTATGGGTAATTTAGGCTATTAAAGTAATAGGCAGGTTAAAGTGTTGGAAAATCACTCTACACTTTTGGTATTCAAATACTATTCTTTCTATAACAAAGTTCAGAATAAATATTTATTATAATTCTTATTAAATGCCAGAGATAAAGTTCAAGATAACTAGTATAAAAATGGTGTGGAAAAGTTTTACTATCTTTCTAACATAATGTAGTGCATTTTCTGCATTATGGTGCTTAAAAAATTGAAGACATGTGTAAATGCCATTTAGTTTGGAAAGTACTTATCCAGAAACCAATTCATTCTGGGGATGGGAGACCACTTAATCATTTCTTAATATAAAAATCTTTCCAGAATTTCTCTTGACTATCATTTCTACTTACAGAAGACATTGCCCAAAGTCTCTTATTTTCCACAGTATAAATCCTTTGTTTCAACCAACTTTCAATGGAAGGCAAATTAGACAACACTACTGCCTTACATAAAATAAAAAGTACTAGAATATTTTGTTGGCTTGATTTACATTTTTTTCATGTTTCTTCATCAATTTTGACTACGATCAAATAATCGTAAATATCTCTTGAAATCTTTTGTGCTGTTCACAAGCATGTAATCTGCCTCAAATTTCTCCATGCTTCTAATTTTTACATGGATCTGCTTATCAAGGTTAAAGCGGATGTTGGTGGTTTGTTGTCACCCATGCCCTCCATCAAGTTTCAAACTTGGCTCCCTTTCCCTGCTCAAGTTTTTATTTTAGAGTTTTAATTTCCAAAGTAAGGTTGAGTTTTCTGGACTTGGTCTTTTACAG
Seq C2 exon
GTGAATATTCACGCCAGCTAGATGAAAAGGACACACTAGTTTCACAGCTCTCGAGGGGCAAACAAGCCTTTACACAACAGATTGAGGAACTGAAAAGGCAACTTGAAGAGGAGATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109061-MYH1:NM_005963:28
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.767 A=NA C2=0.325
Domain overlap (PFAM):
C1:
PF0157614=Myosin_tail_1=FE(4.9=100)
A:
NA
C2:
PF0157614=Myosin_tail_1=FE(4.5=100),PF0003816=Filament=PU(8.9=62.5)
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:
GGAAACCTTGAAAAGATGTGCCG
R:
CTTTATCTCCTCTTCAAGTTGCCT
Band lengths:
246-1779
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)