HsaINT0107433 @ hg19
Intron Retention
Gene
ENSG00000109061 | MYH1
Description
myosin, heavy chain 1, skeletal muscle, adult [Source:HGNC Symbol;Acc:7567]
Coordinates
chr17:10406323-10408382:-
Coord C1 exon
chr17:10408127-10408382
Coord A exon
chr17:10406566-10408126
Coord C2 exon
chr17:10406323-10406565
Length
1561 bp
Sequences
Splice sites
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
3' ss Seq
TATCTATTGCCTCTTCTCAGGAA
3' ss Score
9.29
Exon sequences
Seq C1 exon
AGAGTCCATCTTCTGCATCCAGTACAATGTCCGTGCCTTCATGAATGTGAAGCACTGGCCCTGGATGAAGCTGTATTTCAAGATCAAACCCCTCCTCAAAAGTGCAGAGACAGAGAAGGAGATGGCCAACATGAAGGAAGAATTTGAGAAAACCAAAGAAGAGCTGGCTAAGACCGAGGCAAAAAGGAAAGAGCTGGAAGAAAAAATGGTTACTCTGATGCAAGAAAAAAATGACTTGCAACTCCAGGTTCAAGCT
Seq A exon
GTGAGTATCCCGAAGTCATTTCCTGCAATCTGATGCTAAAACTTCAGCTCAGTGGTCACTAAGGAGAGATCTAGATTCTACCAAATAAGGGACAGATTATGAATCTTTAATAATCCACAACTCCTTAGAATGTTCTATAGAATTCCCTATACAATATTACTAAAAATCACTGTGGTAGGATTCTTTGATGTCAAGAAGGGAAAAATAAAAGCATTTTTCCTTCCCCTCTGTTGTTTTCTACAGCAGAATGTGAACAGGAAATAAAGTGAGCTTTGCTCCCTAAATTCTCCCTACTGAAAAATGCAAATAAGAGCTGTGAAAAAGAAAAATATTGTCAGTGAAGAGGAAGGAGACTTTGATGAAAACACATTAACTTGAAATCAATATTCTGAGTTTTGTATCTACAATCCCCGAGCAACTTTGTGCTCAACTTTATTTTTAGAAACTTTTAGTACCTGAAAGAGTAGGATTATGGCAAGAATAATGGCAATGCTTTCTGTAAGGATAATGGCAATGCCTTCCACAGATAATGTCTATTTTTATGCAAAGTATGAGAGATAGGGTTGATATTCTTATTCTAATGTCCCAGTAACTATCCAGAGGCTTGGAGAGAAATATTTGATCAAAAGCCACTATCTAACCCATTTTTGTAACACAAATAACAAGACAGTTCAATTGCTGCCACCAAAACCAACAGCAGAAACATTAAAAGTTACCATCCCAGTTCTCTGAATTCAGAAAGGGAATTGACTAGTCCCATTGTGCCTACAAGTTTGGGACACATATTTAGAAAATCTAAAGTATGATGAATTGCAAATACCTAGGTTGGTACTGTGACTTTCCTGTACTTTGTATAGATCAGGGTTTTCCACATTGAGGAGTGGTTCATCGTGCCTTCAAGAAACAGGAGATAATCTATCCAAGAATACTCCTCTCCTTTGAGGATAGTATTATAAAACTTCTGTTTAACAATATTCTATCAACTATCCACTAATAAATATTGGGTGAAGTCCCGGACAGGGATGTAAGTTTGAATGAGAGACATGGTCCTTCCCTCACAGTTTATCTCAACTCCTATTTCTTCTTATGAGAAATATGCTTGCTACTTCTCTAAGCATCACCTTGAACATGTTCCATTCCCTTTGTCTACTCTGTCACTGGATGACATTTCTTCCTGTTAAGGCACTTTTCTGATAGTACCCTTCTCTCCCAGCAACCTGCTAGAAACCCAATCCTTTTGTCTATTGGTTTTTCATATATTGAATGCTCCTGAAAATAAATATTAAATAAAGAAAATTGGCTGACCCGAAATTATATACCAACATATTATATATGTTATAACAAATATAATTGTAACATAATTTCACCAGGAACTATGACTTAAGTTCCTTTTTTTATTACCGGACTCATAAGTGCCCAATATTTACTGAATGGTAGAAAGCTAATAAAAATTAACCTGAAGGCTTAAAACAATTTACTTGTTTGGTTTCAAAATATTAATAAAATCTGAAAATGTCTAGGAATTTTCATAAAATCTAAAATATCTATTGCCTCTTCTCAG
Seq C2 exon
GAAGCTGACAGCTTGGCTGATGCAGAGGAAAGGTGTGACCAGCTAATCAAAACCAAAATCCAGCTAGAAGCCAAAATCAAAGAGGTGACTGAGAGAGCTGAGGATGAGGAAGAGATCAATGCTGAGCTGACAGCCAAGAAGAGGAAACTGGAGGATGAATGTTCAGAACTCAAGAAAGACATTGATGACCTTGAGCTGACACTGGCCAAGGTTGAGAAGGAGAAACATGCCACAGAAAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109061-MYH1:NM_005963:22
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.256 A=NA C2=0.383
Domain overlap (PFAM):
C1:
PF0157614=Myosin_tail_1=PU(28.3=62.8)
A:
NA
C2:
PF0157614=Myosin_tail_1=FE(41.9=100),PF0157614=Myosin_tail_1=PU(31.2=53.1)
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:
TGGCCCTGGATGAAGCTGTAT
R:
TCCTCTTCTTGGCTGTCAGCT
Band lengths:
346-1907
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)