HsaINT0107703 @ hg19
Intron Retention
Gene
ENSG00000125414 | MYH2
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10450792-10451257:-
Coord C1 exon
chr17:10451034-10451257
Coord A exon
chr17:10450936-10451033
Coord C2 exon
chr17:10450792-10450935
Length
98 bp
Sequences
Splice sites
5' ss Seq
GCGGTGAGT
5' ss Score
10.49
3' ss Seq
TTATCTTTCCTGTTTACCAGACT
3' ss Score
8.5
Exon sequences
Seq C1 exon
GACCTCTGAGTTCAGCAGCCATGAGTTCAGACTCAGAATTGGCTGTTTTTGGGGAGGCTGCTCCTTTCCTCCGAAAGTCTGAAAGGGAGCGCATTGAGGCCCAGAATAGGCCCTTTGATGCCAAAACATCTGTCTTTGTGGCGGAGCCCAAAGAATCCTTTGTCAAAGGGACCATCCAGAGCAGAGAAGGAGGAAAAGTGACGGTGAAGACTGAGGGAGGAGCG
Seq A exon
GTGAGTAGAATCCCAGGAGCTTGCCACATTTTATTGATTTTTGTTGTTGTTGTTTGGTCACTCAATTAATGTAAACGGTTATCTTTCCTGTTTACCAG
Seq C2 exon
ACTCTGACAGTGAAGGATGATCAGGTCTTCCCCATGAACCCTCCCAAATATGACAAGATCGAGGATATGGCCATGATGACTCATCTGCATGAGCCTGCTGTGCTGTACAACCTCAAAGAACGTTATGCAGCCTGGATGATCTAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-MYH2:NM_001100112:3
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=0.176 A=NA C2=0.042
Domain overlap (PFAM):
C1:
PF0273614=Myosin_N=PU(78.6=48.5)
A:
NA
C2:
PF0273614=Myosin_N=PD(16.7=14.6),PF0006316=Myosin_head=PU(29.5=58.3)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAAAGGGACCATCCAGAGCA
R:
GAGGTTGTACAGCACAGCAGG
Band lengths:
176-274
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)