HsaINT0107452 @ hg38
Intron Retention
Gene
ENSG00000109061 | MYH1
Description
myosin heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:7567]
Coordinates
chr17:10515926-10516342:-
Coord C1 exon
chr17:10516199-10516342
Coord A exon
chr17:10516083-10516198
Coord C2 exon
chr17:10515926-10516082
Length
116 bp
Sequences
Splice sites
5' ss Seq
TACGTGAGT
5' ss Score
7.77
3' ss Seq
CCCTTTTGTTTTGGGTGCAGACC
3' ss Score
8.54
Exon sequences
Seq C1 exon
ACTGTAACAGTGAAAGATGACCAAGTCTTCCCCATGAACCCTCCCAAATATGACAAGATCGAGGACATGGCCATGATGACTCATCTACACGAGCCTGCTGTGCTGTACAACCTCAAAGAGCGCTACGCAGCCTGGATGATCTAC
Seq A exon
GTGAGTTCTTTCTCACGGTCTTCTACTCATGAGAGTAGTTAATAGTTTTTGAAAAGTAGTAGATGATTAAGGTCCCCATCAAATAATTCTGTTCCTCCCTTTTGTTTTGGGTGCAG
Seq C2 exon
ACCTACTCAGGCTTGTTCTGTGTCACTGTCAACCCCTACAAGTGGTTGCCAGTGTATAATGCAGAGGTGGTGACAGCCTACCGAGGCAAAAAGCGCCAGGAGGCCCCACCCCACATCTTCTCCATCTCTGACAATGCCTATCAGTTCATGCTGACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109061:ENST00000226207:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.042 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0273614=Myosin_N=PD(16.7=14.6),PF0006316=Myosin_head=PU(4.1=58.3)
A:
NA
C2:
PF0006316=Myosin_head=FE(7.6=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTCTTCCCCATGAACCCTCC
R:
ATGGAGAAGATGTGGGGTGGG
Band lengths:
246-362
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