HsaINT0107714 @ hg19
Intron Retention
Gene
ENSG00000125414 | MYH2
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10448663-10450935:-
Coord C1 exon
chr17:10450792-10450935
Coord A exon
chr17:10448820-10450791
Coord C2 exon
chr17:10448663-10448819
Length
1972 bp
Sequences
Splice sites
5' ss Seq
TACGTGAGT
5' ss Score
7.77
3' ss Seq
ATTCTTTTTCCTTCTCATAGACC
3' ss Score
9.69
Exon sequences
Seq C1 exon
ACTCTGACAGTGAAGGATGATCAGGTCTTCCCCATGAACCCTCCCAAATATGACAAGATCGAGGATATGGCCATGATGACTCATCTGCATGAGCCTGCTGTGCTGTACAACCTCAAAGAACGTTATGCAGCCTGGATGATCTAC
Seq A exon
GTGAGTGTCCCCTGCCAGTGCTCTGTATAATCATCCTCATGTACCCTACCATCCTGCTTCTTCCACTGAGCATAAATAGGTCACAGGTAGTGACCCATTTCACTTTCATTGCAGCATAACTAGTTAAAAGGCTTCATGATTGCTATCGTAAAGCACAGCTCAACAGCCAGCACTTCCTTGTTTTCCCATCCAAAGCTGGGGAAGGCCGCTGTCCATGTTGACTAGGTTTGCCCAGAAACCCTTCAATAGGCATTTGAGCAGTTACTACTTATATTTCAATCACAGGTAATTTTCCCCATTCCTTTTCCCCACTCCAGCCGCAGAATCATCCAGAGTGAAAAGATAAACATGTTTTAACACTTTAAACTATTTTAATTTTTTTTTGAGACAGAGTCTTGCTCTGTGTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCGTGGGTTCAAGCGATTCTTGTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTATTTTTTTTTTTTTCGTATTTTTTTTAGCAGAGACAGAGTTTCACTATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATCATGCCTGGCCTACATTTTTTTTTTTTTTAAAAACAAATTTCACTCATTTTCAATCCCCTGAAATAACAGCAATTTGTATCTGTGTGTTCTGGTCCCTTCTATCTGGAATGTCACCTCCTCGATGAAACCTCTCCCACTTCCCCAAGCAGTGAGATGTTCTGTCCTTTCCTTTCTGTCCCTGCCTTAACACTAACCATGTTTCTCCTTGATCATTCATTTACATGACTGTCTCCTACATAGACTGGGGATTCCTCAAGGGACATCATCTCATTTATCTGGTCTCATTTATACTGTCTGGTAAAGGTCTGCACATAATAAACATGCAGTAAATATTTTTAAATCAAATTTATTATACTATATTCATATTTTTGCATAGTTTAGCCAGTGCTGTTATTTAGCTAGGCAACACCTATACAAGTGTACCTAGAGTTGATGGTCAGCATCCAGTTTAACTAGTTGGTGCTTGTCTTGAACCAATTGTCAAAGATTTTTTAAATCCCCCTATTGTAATCATGATGTATATATATATATATATATATATATATATATATCATTTCGTGTCCTGTTTCCTTATAACTTAAAAACGTTTTGTAAATATTTCCTGAGTGTTGCTGTATACTTTCATGTTTACTTTTTTAAATGCCTGCATCAAATTGTCTTAGAAGATTTACCATAGTTCACCTAACCATTCCCTTACTGTTGGCCACTTAGCTTATGTCCAAATTTATGTTCTCATAAATTTGAATTATCTTAATGCTGCAAAGAAAATATAAACCATTTCCATAAAACAATAAAAGTTTCATAGCACATGTGTTTAATAACATGTACTTCTTCTTCTGCTATGTAAAAATCACTGTGAAAAGCCCTGAGGAGAGCAATAAGAAAGCTGAATTGTAGTCACTTCCCTCAGGATTCTGCTATCACATTGTTGAACTTGCCAACTAGTTTTCAAGCTGATGCCTTGAAGAAATAAGAGTACTCACTTAAAGTGCTCCTTTTTGTTAAAATTCAATTAATTTCCAGACCAGCCTGGGCAACAAAGTGAGACTTTAGCTCTACAAAAAGCACGTACAAAATTAGCTGGGCATGGTGATGCATGCCTGTAGTACCAGCTACTTGGAAGGGTGAGGTGGGAGGATTGCTTGAGCCCGGGAGGTTGGGGCTGCAGTGAGCTGAGGTAGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAAAACATTCAATTAATAAGTTAATTTCACAAATAACAGGAAAGGTCTTTGGGTACTTATTCTTTTTCCTTCTCATAG
Seq C2 exon
ACCTATTCAGGTCTCTTCTGTGTCACTGTCAACCCCTACAAGTGGCTGCCTGTGTATAAGCCCGAGGTGGTGACAGCCTACCGAGGCAAAAAGCGCCAGGAGGCCCCGCCCCACATCTTCTCCATCTCTGACAACGCCTATCAGTTCATGCTGACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-MYH2:NM_001100112:4
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.042 A=NA C2=0.020
Domain overlap (PFAM):
C1:
PF0273614=Myosin_N=PD(16.7=14.6),PF0006316=Myosin_head=PU(29.5=58.3)
A:
NA
C2:
PF0006316=Myosin_head=FE(54.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACAGTGAAGGATGATCAGGTCT
R:
TCAGCATGAACTGATAGGCGT
Band lengths:
294-2266
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)