Special

HsaINT0107435 @ hg19

Intron Retention

Gene
Description
myosin, heavy chain 1, skeletal muscle, adult [Source:HGNC Symbol;Acc:7567]
Coordinates
chr17:10405083-10406231:-
Coord C1 exon
chr17:10406055-10406231
Coord A exon
chr17:10405229-10406054
Coord C2 exon
chr17:10405083-10405228
Length
826 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGC
5' ss Score
6.16
3' ss Seq
CATGGATTATTAACTTTTAGCTT
3' ss Score
5.43
Exon sequences
Seq C1 exon
GTGAAAAACCTCACAGAAGAGATGGCGGGTCTGGATGAAACCATTGCTAAGCTGACCAAGGAGAAGAAGGCTCTCCAGGAGGCCCACCAGCAGACCCTGGATGACCTGCAGGCAGAGGAGGACAAAGTCAACACCCTGACCAAAGCTAAAATCAAACTTGAACAACAAGTGGATGAT
Seq A exon
GTAAGCCTAACATTATATAAAAATGATTTTTTAAATTTTGTAACAAACTAAGTAAGCATAAGTTTGTGTCGTTATGATATAGTGAGTACTTATCAAGTGCCTCCTATGAATGAGGAATATGGAACATCATCCCTATTACAAGGTCTAAGATGTACACACAATAAAGTTTTTAAAATCAATAAAGAAAGTTAACTGTGAATAATAGACAATACGGGTAAAAAGAATTGATGGAAAGGAAGGTTAATGTGTTCACAAAGAAAAGCTATACAAGCAAAACAGGTCTTTCGCTGGGCTTGAAAGACAAGGGGCTATGTGCAAAAAGAAAGAAGAGGGAGGGTGTTCTAAGAAGGCAGCATAGCAGCAGCAAAGAAGTTGTAATGATCAATAAGGTTTTCTCTCACAGAAACAAAGGACACTCAGAATTAGGAATGTGGAAGATAAATTTGGCTTTAAACATGATCTGATATCTAATAGAGAACCCACTGAAAATGCCTGAGTAAGGGAGGCGTTAAAAAAGTTCATGGTTTGGAAGTATTAGCATGGTGTCCATCCCAGCTGGAAAAGTATTGGATTCCAGTGGGGAGATGCAGAAGGCATAATGTCTCACTAGTAACTTATTGTAACAACGTGACAAAGAGGCACATTTTACCTTTTAAACGATGACTTTTTCGACTAGGTAAATACCAAGGAGAATGGAATCAATGGGACAAATCTGCCTAATTCATAGAAAAATAGTTTGCTGCATAGATATAATGTTTAAAAATTTCATCTGGGACAAAAGGTGCTACCATTCTAAGAACCATATTCATGGATTATTAACTTTTAG
Seq C2 exon
CTTGAAGGATCTTTGGAACAAGAAAAGAAAATCCGGATGGATCTAGAAAGAGCAAAGAGAAAACTAGAGGGAGACCTAAAATTGGCTCAAGAATCCACAATGGATATAGAAAATGACAAACAACAACTTGATGAAAAGCTTAAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109061-MYH1:NM_005963:24
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.644 A=NA C2=0.857
Domain overlap (PFAM):

C1:
PF0157614=Myosin_tail_1=PD(28.3=91.5),PF0157614=Myosin_tail_1=FE(42.0=100)
A:
NA
C2:
PF0157614=Myosin_tail_1=PD(24.6=69.4),PF0157614=Myosin_tail_1=PU(1.6=28.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAAACCTCACAGAAGAGATGGCG
R:
TTTTAAGCTTTTCATCAAGTTGTTGT
Band lengths:
318-1144
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