Special

HsaINT0108784 @ hg19

Intron Retention

Gene
Description
myosin VA (heavy chain 12, myoxin) [Source:HGNC Symbol;Acc:7602]
Coordinates
chr15:52606320-52609419:-
Coord C1 exon
chr15:52609245-52609419
Coord A exon
chr15:52606401-52609244
Coord C2 exon
chr15:52606320-52606400
Length
2844 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGAG
5' ss Score
7.1
3' ss Seq
GATCATTTCATTTCTCACAGATT
3' ss Score
8.58
Exon sequences
Seq C1 exon
GTACAATGTCAGTCAACTGGAAGAATGGCTGCGTGACAAGAATCTGATGAATAGTGGGGCTAAAGAAACCCTGGAACCTCTCATTCAGGCTGCTCAACTTTTGCAAGTGAAAAAGAAAACAGATGATGATGCAGAAGCCATTTGTTCTATGTGCAATGCTTTAACTACTGCCCAG
Seq A exon
GTAGAGCAACTTTCCCTGTTACAAAATAATTTAACATTCATCAAAGATGATCTTTAGGGAAGTAAAGAAGTCCTCTACTTATTGCTTGTATCTCTGAGCTGACTTCATCTGTGTTCAAGAAGATATATGCCTCTACCAATCTTAAAGCAAGGAGATTTTGCCAGAAATTAATACATTTCAGTGCTAATTACAGTATAAATATATTTAATATTCAGCAAATATTTATTGAGTACTTACAGTGTTCTATATAACATTGAAGGCACTGGGATACACCCATAGGCAAAACAAAGTCTCTGCTCTCATGGAGTATACAGTCTATGCAGCTTATATTCCATAAAATAGCTTTCTATCTTATTTGATAATTGAGTGGATTATCAAATAGTGACTTTGTTTTTAGAGACAGATAATTCTTGTTACTTCAACAGATGATTAATTAAGCCTCCATCTCAAGGCACCATATTTATTGCTGGGGAAGATGCTTCAATAAATAAGGAAAAATTCCTGCCTTCAAGGAGCTTACAGTTCAGTAGGGAAGACAGAGTCGTATCCAACTGACTCTACCGTAGAGGTTCTAGCAAATTCTGTAGTAAGATGCCTAAAGGAAGTACTGAGGGAAGATAGCAGTATTCAGGGAAGGTCCCATTAATCTGGGCATTGAATTTAAGGAAGTGGAAGAATGAGAAGGGCATTTGAGGATTATAGTGACAGCATGAAGCAAGGCACAGGCATGAACATGCCCAATTTTCTTTTGCCCGGTTATTTTCTGTGCTGACTCTTAGACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTATGATCTCCACTCACTGCAAGCTCCCCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAAAGATGGGGTTTCACCATGTTAACCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGTGCCCAGCCAACTTTCTTAATGTTCATCATATATCCTACAACATATGAAATTTTCAGTTTTGCCCAATACAATTAAAACTCAATCAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATTGCTGGAACCTGGGAGACGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAAAAAATCAGTAGGCCAGGCGTGCTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGCATTGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACTTGAACCTGGGAGGCAGAAGTGGCAGTGAGCCAAGATTGTGCCACTGCACAGAGACTTCATCTCAAAAAAAAAAAAAGTCAATCAGTAGACAATCAGAATCAAGACTTGCAGCTTCTTAATGTTGAATTCATGTTTGCATAACTTCTTACTAAGAATAAAGCAGAACTATCTGACAGAACAATGGTCCTGAGATTTCCTCCCAGTTTCTGCAAGTGTGGAAAGTAAGAATACCCTGGAGGAAGCCCAACTTTATAGAAGTTGGCTGCCATTCAACTTCTAAAGAATATACTTTAATACTTAAATATACTTTAAGCATATTTCACAGAGTGAGGCAGACCTGCAGTTTATTTATTTAGCAAATATTAGTTAACAAAGTGGTCCCACTTTTTAAAATTCAAATACTTGCCTCCGAGAGACTGATCCCTAATTCAGTTTGTCACCCACAGACCTGATAACAACATGCCCACTTTCTAGTTCTCTGGTGCTTAATTTATTTTCCTATAGATCAGCACTGTCCTGCATTCAACTTTTATTTTCATTTTGTGTTAATAGCCACATGTGGCTAGTGACTACTACTGTTGTATTGGACAGCACAGGTTTAGACAATACCTTGAAAATGGAAATATCTACCTTATATAGACGATGATTTATTTTCATTAGAAAAGAGACATGACCATTTTACAAAAAAAAATTATTGAACTTTTTAAAAAAGAACTTCATACTCTCTAATTGATTAATTTCTTTAGGGGCTTTTGTTATTCATGTTATTTATGATCTTTTATAAAAATATGATTTAAAAAACATTCAAAAGAGATAATTGTATTAATACGGCTAACATTTTTATATGGAGAAAAGTTGCAGAATAGTATTAATAGAATGAATCCCATTTGTATAAAAATAAAATGAACTAGAATATTTATAGCAGCTAGAGGGGGTGTTCAGGACATGGTTAACAATTGCCACTTTGGGAGACTGGAAGGATGGAAGTGCGGACATTTATTTTTCATGTTTTATTCTCTTGTGCTATTTGAATATCTTCGAAATTTACACAGCTTCTTACAATATTACACAAACATTACATTGATACATTCTCTTGTAAAAATTCAGATAAAGGTAAATGTGCAGACCAGCTCCTCCTTCCTTCTGGTCCCAGCCCACCCCTGAGTAGAACTGAAATCTGTACGCACAGATCCTTTTAATTTTCCAGATTATAGGTACCCAGTGTGTATTTGATAATATGCCAAAAACTTTGATCATTTCATTTCTCACAG
Seq C2 exon
ATTGTGAAAGTGTTGAATTTGTATACTCCAGTTAATGAGTTTGAAGAAAGAGTCTCTGTGTCGTTCATTCGTACTATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197535-MYO5A:NM_000259:39
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=0.000
Domain overlap (PFAM):

C1:
PF0184314=DIL=FE(54.7=100),PF0146614=Skp1=PU(69.3=88.1)
A:
NA
C2:
PF0184314=DIL=PD(12.3=48.1),PF0146614=Skp1=PD(28.0=77.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
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