HsaINT0107694 @ hg19
Intron Retention
Gene
ENSG00000125414 | MYH2
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10434950-10436738:-
Coord C1 exon
chr17:10436602-10436738
Coord A exon
chr17:10435206-10436601
Coord C2 exon
chr17:10434950-10435205
Length
1396 bp
Sequences
Splice sites
5' ss Seq
AAGGTATAA
5' ss Score
7.08
3' ss Seq
TTGCATCAATTAAATTTCAGGGA
3' ss Score
7.02
Exon sequences
Seq C1 exon
GTCTTTTTCAAAGCTGGTCTTCTGGGGCTCCTAGAGGAGATGCGAGATGACAAGCTGGCCCAGCTGATTACCCGAACCCAGGCCAGGTGCAGAGGGTTCTTGGCAAGAGTGGAGTACCAGAGGATGGTGGAGAGAAG
Seq A exon
GTATAAAAAATATGTTTATTCACATATTCCATCTTCAAAAACATATTTGAAATGGCTTACAGTTAAGACTCAGCTTATGATAAGGACACTAAAGAAGAAATGAATAAGAGTCCTATAATGAAGTGGGAATACACATGTACCAGAAAACTTAAGGAAGGAACCATCACCATCTGATTGCATGGGTAAAAACTTGAGAAGTTAGGTAAGAAGTGTGTACTTCTTATCTAATAAGATAAAATACACCAGTGAGTAAGCAGAAGCAAACTTTTGCCCTAGCACCTGTTTCTAATATGAATTTATTGGACAGATCATTAGATAAGGGACATTGACCTGCAAAACAGACAGTATACTCAAGAGTGCTTTTACACAGGCTGTAGAGACAACTTTTTCCCTCTGATCATTTATATTATCAAACTCTCATGATTTAAAATATTAGGGGCCATTTATCTGTGAAAGACTTTTTGCAGTAAGTTAACACAATGCATCAGGGAATGTAGCTATTTGGTGATCTAATTTGATGCAAGGACAGAGTTCAAAGACTATAGAGCCAGGTGTCTCAAAGTACAGGATGTCTGTGATCAGGACCATTTCTCCATGTTGAGAAAGGCATTTTACATTGCCACCTATACATCTACACATATACATATGTGTATGCAGATATATAAATAATTTATATGAAGCAAATTTTATTTTTACCACTTGTAATTATGCTAATATTTTCAACTATATTCCATTTTATTAAAAATAATAAATTTTGGTCATGATCCACGATATATATATATTTGGGTAATTGTCTATATATGGGGTAATTAGCTGTAAAAATCATTTAGATGAAAACAAAAGTGGTATTAGAGAATAGAATACAAAATTCACACAACATTAACATATAAAGCCAGATATTTTCTAAGAAATTCTGAGTTTTTAATATCTCCTGCCCCATATACCCCTAAAGAGCTGTGTTCCCCCTTCACTGCCCTTAGTGGTGTTTTAGTAGCAATGTTTGAGAAGCACTGACATACAGCAAGGCTTCTCAAAGGGTGCTCCTTGGACTTGCAACATCAGCATTTCTTGCAAACTTGTTAAAAGTGCCAATTTTCAGGCTCCACCCTAGATCTTCTGAATCTGAATCTGAATCTACGGAGGTGAGGTTCAGGAGTCAGTATTTTAACAAGCCCTTCAGGTGATTCTTATGCATGCCAAAGTTTGAGAAGCAGTGATGTAGAGAAATGAGTGACCTTAGCAAGACCTTGACCATCATCCCGAAATAGAATTTTTTCATCTGCATGTTTGAAAGCAGAGTAGGAACAAGGTGAAGCAGAACCTCCAACTCTCACTGCCAAGGTTTCATCCCATTGCATCAACCACACAATACTAATTTGCATCAATTAAATTTCAG
Seq C2 exon
GGAGGCCATCTTCTGTATCCAGTACAATATCAGATCCTTCATGAATGTCAAGCACTGGCCCTGGATGAAACTCTTCTTCAAGATCAAGCCTCTGTTGAAGAGTGCAGAAACTGAGAAGGAGATGGCCACCATGAAGGAAGAATTTCAGAAAATTAAAGACGAACTTGCCAAGTCAGAGGCAAAAAGGAAGGAACTGGAAGAAAAGATGGTGACGCTGTTGAAAGAAAAAAATGACTTGCAGCTCCAAGTTCAGGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-MYH2:NM_001100112:21
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.023
Domain overlap (PFAM):
C1:
PF0006316=Myosin_head=PD(0.4=6.5),PF0061222=IQ=WD(100=43.5)
A:
NA
C2:
PF0157614=Myosin_tail_1=PU(30.8=61.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGATGCGAGATGACAAGCTGG
R:
CCTGAACTTGGAGCTGCAAGT
Band lengths:
354-1750
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)