HsaINT0108762 @ hg38
Intron Retention
Gene
ENSG00000197535 | MYO5A
Description
myosin VA [Source:HGNC Symbol;Acc:HGNC:7602]
Coordinates
chr15:52375304-52376558:-
Coord C1 exon
chr15:52376347-52376558
Coord A exon
chr15:52375461-52376346
Coord C2 exon
chr15:52375304-52375460
Length
886 bp
Sequences
Splice sites
5' ss Seq
ATGGTAGGT
5' ss Score
8.6
3' ss Seq
ATGTTATTTTCTTTGGCCAGCTA
3' ss Score
5.77
Exon sequences
Seq C1 exon
GACAAGGACAAATACCAGTTTGGTAAGACAAAGATCTTTTTCCGTGCCGGTCAAGTGGCCTATCTAGAAAAATTGAGAGCTGACAAACTGAGAGCTGCCTGCATCCGGATCCAGAAGACCATCCGAGGGTGGCTGCTGAGAAAGAAGTACCTACGCATGCGGAAGGCAGCCATCACCATGCAGAGATACGTGCGGGGCTACCAGGCCCGATG
Seq A exon
GTAGGTCTCCTGGGGACAGAGTAGAGTGCCCATCTAATTCACTGTCCAACCAAGGACAGTTTTGACTGGTCACCATAGCTGAAAAGATAACACCTCACCTTTTCTTAGTTCCAAGGGACAACAAATTAACTCATAGGACAGCTAAATAGAATAAAATTTCACTCAGCCTTATGAATGATTCAGATTTATCTTCAAAACATTTACAAACTGCTGCTTACTTATGTCCTCAAAATTTTTATTTTTGATACTTTTATATTGGGCTTGAGGAAATCATGTATCAATTAAAACAGTCGTGAATATGAGCTAGGTAATAATGACTTCATTGTATAATTTTTGGGAGCAATTAACTGAGAGGGTCTGGAAGAGAATTACACTTTAGTGTGATTACTTATTAGTTTAATTTTAATTGAGAAGTATAAGTAGAACTGAATTAATCATGAGCTTATAGCCTAACAAAATCAGGAAAAATATGGTAGATGAATAATGGCTAGATCCAAGAAAGCTGGTGATAACTAAGTATGAGATTACTGTGTATGTCTGTCTGTTCTATAAAGAGGCATGGCCTGGGGTAAATGGATCCTGTTGTAGAAAGAATGAATTTTTGTGAATTTTGCTTTCTTGTAAAATCTGGCAATGTGGGCCATCCTACTTTCCAGAGTTAGGGAGGGCTCAAATGAGATAATAAATGCAAAAATACTTTGGGAAACTATAAATTGCTATACAAATGTAAGTAAATATAAATGTTGACTTAGCATGCACATTATTAGAATAATACAATGGAGGTACTATTTATGCCTAAAACAGTGACACTCTTTAAGTTTCTCTAATATGTATTCCTGCATTTTTTTCTGATTACTGACAACATAATGTTATTTTCTTTGGCCAG
Seq C2 exon
CTATGCTAAGTTTCTGCGCAGAACCAAGGCAGCAACCATCATTCAAAAGTACTGGCGCATGTATGTGGTCCGCAGGAGGTACAAGATTAGACGAGCTGCCACTATCGTTCTTCAGTCTTACTTGCGAGGCTTCTTGGCCAGAAATAGGTATCGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197535:ENST00000399231:19
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:
PF0006316=Myosin_head=PD(2.1=19.7),PF0061222=IQ=WD(100=29.6),PF0061222=IQ=PU(81.0=23.9)
A:
NA
C2:
PF0061222=IQ=PD(14.3=5.7),PF0061222=IQ=WD(100=39.6),PF0061222=IQ=WD(100=39.6)
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:
ACAAAGATCTTTTTCCGTGCCG
R:
CTTGCGATACCTATTTCTGGCCA
Band lengths:
342-1228
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