Special

HsaINT0107702 @ hg19

Intron Retention

Gene
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10429916-10430373:-
Coord C1 exon
chr17:10430255-10430373
Coord A exon
chr17:10430113-10430254
Coord C2 exon
chr17:10429916-10430112
Length
142 bp
Sequences
Splice sites
5' ss Seq
AAAGTAATT
5' ss Score
3.64
3' ss Seq
AGGTGTAACTGCCTCCATAGGCC
3' ss Score
6.1
Exon sequences
Seq C1 exon
GTGAGTTTTCACGCCAGCTTGATGAAAAGGAAGCTCTGGTGTCTCAGTTATCAAGAGGCAAACAAGCCTTTACTCAACAGATTGAAGAATTAAAGAGGCAACTTGAAGAGGAGATAAAA
Seq A exon
GTAATTATGATTCTAAGACTGATTTTTTCCCTCATGAGCTGATTCTACATGGAGCCTGTTATACCAGCTTTCAAAAGGTTTTGAAAGTTAAGAGTTAAATATTTAAATATCCAGTAAAATGAAGGTGTAACTGCCTCCATAG
Seq C2 exon
GCCAAGAACGCCCTGGCGCATGCCCTGCAGTCTTCCCGCCACGACTGTGACCTGCTGCGGGAACAGTATGAGGAGGAGCAGGAATCCAAGGCCGAGCTGCAGAGAGCACTGTCCAAGGCCAACACCGAGGTTGCCCAATGGAGGACCAAATACGAGACGGACGCCATCCAGCGCACAGAGGAGCTGGAGGAGGCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-MYH2:NM_001100112:29
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.175 A=NA C2=0.424
Domain overlap (PFAM):

C1:
PF0003816=Filament=PD(4.6=32.5),PF0157614=Myosin_tail_1=FE(4.5=100),PF045827=Reo_sigmaC=PD(30.3=90.0)
A:
NA
C2:
PF0157614=Myosin_tail_1=FE(7.6=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAAGCTCTGGTGTCTCAGT
R:
TTTGGTCCTCCATTGGGCAAC
Band lengths:
242-384
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