HsaINT0108783 @ hg38
Intron Retention
Gene
ENSG00000197535 | MYO5A
Description
myosin VA [Source:HGNC Symbol;Acc:HGNC:7602]
Coordinates
chr15:52317048-52319342:-
Coord C1 exon
chr15:52319060-52319342
Coord A exon
chr15:52317223-52319059
Coord C2 exon
chr15:52317048-52317222
Length
1837 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
3' ss Seq
GTATCTCTTTTTTTTCATAGGTA
3' ss Score
9.6
Exon sequences
Seq C1 exon
TCTCAGGCATGCTGGAACATGAAACGATTCAGGGCGTGTCTGGGGTGAAGCCCACAGGGTTGAGAAAGCGAACCTCCAGTATCGCCGATGAGGGCACCTACACACTGGACTCCATCCTCCGGCAGCTCAACTCCTTCCACTCGGTCATGTGTCAGCATGGCATGGACCCTGAACTGATCAAGCAGGTGGTCAAGCAGATGTTCTACATCATAGGGGCCATCACCCTGAACAACCTTCTCCTGCGGAAGGACATGTGCTCCTGGAGTAAAGGCATGCAGATCAG
Seq A exon
GTGAGCAAATGCCAACACCTGCGACAGTGTCTTTTTGCTGCCCAGCTGGCCTGCCAGGGTTGTGGAGAGCTGATGACTTGTTTTCAGTTCTTGCATCTCATGTCTGGTGCCATGTGGCCAAGCAGCAAGGGAGAAACTGGCACGGAGCCACTTTCCCTTGCCTGGCTGGATTTCACCACATCTCATTATTGCTCCCTGTCTGTACCCTGCCAACAGGTTCTTCACATTCTTGATAGGAAACCCTTTTCCACTGTGAAGCTTGCTTATTTGGGGGAGTGAAGAGATGATGCAAAAATACACAAAGATGAGATAGCTGCTTCCTCTCCTTATGTGTGTGTTTTAATTATACAATAAGAAATTATTAAATTATAATAATGAAGATTTCTAATGTTTGATTGCTCTTAGAAATATATTTTTGGAAAAATACCTTTTTGTACCTATGGCAACAAGAACAGGTCTGATAGATCTTTTACTAATTCTTAAAATATCCCCCCTCTATATTTTAAGAAAAGCTGCACTTAATTTTATGCCCAATACTCCTCAGCATAACCTCATTATTGTAACATAATTTTTTTGCAAATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTGGGCCACAAATTTTTTATTTTAAAACAGCTAGAATATTCACCAAGAGGAGGGAAAAATGATTTCTCCTATCAAAGTCTTAGTAGTTACTCAATCTCAGGAACTGTTAGTGTTCTTTTCAAATTTTCCATCCTGACTTACATTGAAGTGTAGTGAATTTTAAGACAATAATGCCTTCCTCTCAGATAGTGGAGCATATTTCTCTATAAGCTCTGCATGGAAATGTGGAGCCACCTGTCGCAATATTATGCTGGCCCCTATTTGCCTGGTTGCTAAGTGCTGATTGTGTGTCTATTGACCTCAGTCTTAGGACTGCTGCCACTTGGTTGGCTATTTTGTGAAACCTACAATGTCTTTGTAGTTTGTCTCTGTCACCATTTGGAGTCTTTGTCTCTTCCAGTGGCCCTCCCTTGCCTCTCTCTCCTTTCATCCCGGAGCTTTCTCAGGCCACCATCTTCATCTCCTAGGCTCTTCCCTTAAGGCTTCAGCACAGGTATATGTGGGGCTTTTGGTTATTCAGTTACCTGATTTGGAGTTTGCCTTAAGAGAGAGTGCTTCAAGGATTATCAAGTCTCACCCTGCAACAGCAACCCAGCTCTGAAATTGTAAGAGAAGCTACAAAGTGTTTTCTGGCCAGCTCCCCAATAAAGACAGAGCTACATTATGTTATTCTATTTTGTTTATTAGCAAGTCTAATAACTTTTGCCATAATGACTTCATTTCCATCTTCCATTAAAGAGAATTACATTATCTTGTCATTTAGTCTTATATAATGGTGATTATAATCCTCATGACTATAATAAATTTTTAAGCACAGCTGATGAGATTTAAGAAAATTGAACAAAAATACTGCCTGTCATTTTAACATAAATCCTGACAAGGCCGCACACAAAAAAATTAAGACATTTTTGACAAAATTCAGCAAATTTGCATTCTCTGTATCTCTTTTTTTTCATAG
Seq C2 exon
GTACAATGTCAGTCAACTGGAAGAATGGCTGCGTGACAAGAATCTGATGAATAGTGGGGCTAAAGAAACCCTGGAACCTCTCATTCAGGCTGCTCAACTTTTGCAAGTGAAAAAGAAAACAGATGATGATGCAGAAGCCATTTGTTCTATGTGCAATGCTTTAACTACTGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197535:ENST00000399231:38
Average complexity
IR
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=PU(31.1=34.7)
A:
NA
C2:
PF0184314=DIL=FE(54.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAACGATTCAGGGCGTGTCT
R:
GCAGCCTGAATGAGAGGTTCC
Band lengths:
356-2193
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