Special

HsaINT0107689 @ hg19

Intron Retention

Gene
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10438595-10439923:-
Coord C1 exon
chr17:10439847-10439923
Coord A exon
chr17:10438683-10439846
Coord C2 exon
chr17:10438595-10438682
Length
1164 bp
Sequences
Splice sites
5' ss Seq
AGAGTAAGG
5' ss Score
5.42
3' ss Seq
GATTTTTCCTGGTTTTACAGGAG
3' ss Score
8.38
Exon sequences
Seq C1 exon
AGGGAGCTGGTGGAGGGGCCAAGAAAGGTGGTAAGAAGAAGGGCTCTTCTTTCCAGACAGTGTCTGCCCTTTTCAGA
Seq A exon
GTAAGGAAGAAATTGTTTTTGACATTCTCCAATTACTTTGGGATTTTTTTTACATGGGTCTGTTTTTCTGAACTTCTATTTTTGTTCTAAGGATATATTTATCTATTCATATACTAATATCACATTACATTTATTAAAATTACTTTGTAATATGCTTTGACATCTCGCTGGGCAAAATTCCCCTCGTCTTTTCTTTTTTTAAATTTATTTTTTATTTCAATAGGTTTTGGGGAACAGGTGGTGTTGGGTTACATGCATAAGTTCTTTAGTGGTGATTTCTGAGATTTTGGTGCACCCATCACCAGAGCAGTGTACACTGTACCCAATGCATAAAATTTGCTTTTAAAAGTACAAGATCATTCCATGAGTAGTTTAGAAAAGGACTGATAGTAACTAGTGACTCTGTTGATCTAACTTTGGAAAGAAGGGATTTAAATTACTCAGAAATTATTAGTTCACTTTTCATGCTAAGTCAAATAATGAGAAATATTTTATAGAAAATCTTATAGACCATAATACTCTGCCATTCATAATCTAGCTGAGCCATGAAAAAGAGCAATGACATGAACTCAGAGAGACTAAAAGACATCAGTATGGCTAATGAACTCATGAATTCTAGCAGCAAATCTGCAGTGCAGCTAATATGGTATCCTTGCTCTTAATCGAGTCAATTTTCAATTATAATTGGTAGGATTGCTCCCCTGTAGATAATCTCTATCCCCTAAAAATTGATAGAGCTGGAAAAGAGGAGCTGTATTATAAGGAAAACGTCCAAATGTGGTGCAGGCTTCCATTTCCTTATTGGAGAACTATGGAATTTGGTAGAAGAAAGAGCGATCATCTCGCATGGGAAGGCAATGGCCTTGTAAATGTATGTGTATGGCCAGGGACCAGGGTAGAAAGGATGGTGTTGGCATAAACTGAAAAGAAGCACATGCCAGGATGCTTTCCTTGTTCTGTGTGTAACTCTCGGAAACTCAAGTGCAGAAAGATCTATTGAGGAGGAAAAAGCATCTCAGAAGAAGCATTCAAAGTGTTGCCTTATATGAATGCAGTCCATACTGGTCATTCAACTCAGCTATAGATATTGATTTTATAGACACCAATGACTGCTCATATCCATGTCTAGAGCCTAAAATGACAGGATTTTTCCTGGTTTTACAG
Seq C2 exon
GAGAATTTGAACAAGCTGATGACCAACCTCAGGAGTACCCATCCTCACTTTGTGAGGTGTATCATCCCCAATGAGACAAAAACTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-MYH2:NM_001100112:17
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.449 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0006316=Myosin_head=FE(4.3=100),PF0157614=Myosin_tail_1=PU(2.3=3.8),PF0026115=Tropomyosin=PU(12.1=26.9)
A:
NA
C2:
PF0006316=Myosin_head=FE(4.2=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


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