HsaINT0107941 @ hg19
Intron Retention
Gene
ENSG00000133020 | MYH8
Description
myosin, heavy chain 8, skeletal muscle, perinatal [Source:HGNC Symbol;Acc:7578]
Coordinates
chr17:10322204-10323574:-
Coord C1 exon
chr17:10323335-10323574
Coord A exon
chr17:10322348-10323334
Coord C2 exon
chr17:10322204-10322347
Length
987 bp
Sequences
Splice sites
5' ss Seq
GCAGTAAGT
5' ss Score
9.07
3' ss Seq
GTTTCTTGCTTACTCACCAGACT
3' ss Score
5.48
Exon sequences
Seq C1 exon
GCAGAATCCTTTGCTAAATAAATCGCAGCCATGAGTGCGAGCTCAGACGCTGAGATGGCTGTTTTTGGCGAAGCTGCTCCCTACCTTCGAAAATCAGAAAAGGAGCGGATTGAGGCCCAAAACAAGCCGTTTGATGCTAAAACATCTGTCTTTGTGGCGGAGCCCAAGGAATCCTATGTGAAGAGCACTATACAAAGCAAAGAAGGAGGGAAAGTAACCGTAAAGACTGAAGGTGGAGCA
Seq A exon
GTAAGTGAAAACAGGGAGAAAATACTCCCCATTTTATTTCTTGGTTCAAAAGTTGAAGCCTAACTTACTGGGAATCTCCAAGCCTGTTGCCAATGCAAACACCCTTCTAGTCAGTGTTGAGACATTAGATGTGGAAGGCAAAAGAAATTCACAGCAGTACCTTCATGTCTTCCCTTCCCAACTTCGCACAGGACCTCACCCCACTATGTATGGCCTTCACCATTTCCCTTCAATTCCCCACTTCCTAGTCTGAATGTCCAAACTTGAGGGAAATGAAAACAAGCTCCTCCTATCAGAAGTTAAATATTTACTTAGTTAAATAATGTATTAATATCCCCATTACTTCCAAAAACATGAAGTTTCTTAATGAATGAAAGAAAAAAATAAAAATTTAGCCTACTAAAATAAGAAAAAAAGGATATAAACTGATAAATCTGGGATAAGAGAATGTGGGAGGAAAAAATCTTTTAAAAAGATAGTGTCCTAGCTCATCATAGGAAACAGGTTTTCTTAACATTAAACTCTGAAATGAATATATTTCATGCCTTTTTTAAGAGGACATTAAATAATATAATGAGAAGTATGTGTGATTATAGTTTTGTACCAAAATATACAGGCAAACATAAACCCTACCTCCAACCATTAAAACGAACTGGTCTTAGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGATGGGCACTTGCAATCCCAGCTACTCAGAAGGCTGAGGCAGGACAATCACTTGAAGCAGGAGGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAAAAAAAGCAAAACTCTATCTCAAACAAACAAACAAAAACGAACTGGTTTCTTGCTTACTCACCAG
Seq C2 exon
ACTCTAACTGTCAGGGAAGACCAAGTCTTCCCTATGAACCCTCCGAAATATGACAAAATTGAGGACATGGCCATGATGACTCATCTACACGAGCCTGGAGTGCTGTACAACCTCAAAGAGCGCTATGCAGCCTGGATGATCTAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000133020-MYH8:NM_002472:3
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.186 A=NA C2=0.062
Domain overlap (PFAM):
C1:
PF0273614=Myosin_N=PU(78.6=47.1)
A:
NA
C2:
PF0273614=Myosin_N=PD(16.7=14.6),PF0006316=Myosin_head=PU(4.1=58.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAAATCGCAGCCATGAGTGCG
R:
CTGCATAGCGCTCTTTGAGGT
Band lengths:
352-1339
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)