HsaINT0107442 @ hg38
Intron Retention
Gene
ENSG00000109061 | MYH1
Description
myosin heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:7567]
Coordinates
chr17:10497734-10498822:-
Coord C1 exon
chr17:10498626-10498822
Coord A exon
chr17:10497918-10498625
Coord C2 exon
chr17:10497734-10497917
Length
708 bp
Sequences
Splice sites
5' ss Seq
CAAGTATGT
5' ss Score
7.44
3' ss Seq
TTATTGCCCATATTTCATAGGAA
3' ss Score
7.75
Exon sequences
Seq C1 exon
GCCAAGAGTGCCCTGGCACATGCCCTGCAGTCCTCCCGCCATGACTGTGACCTGCTGCGGGAACAGTATGAGGAGGAGCAGGAAGCCAAGGCCGAGCTACAGAGAGCAATGTCCAAGGCCAACAGTGAGGTTGCCCAGTGGAGGACCAAATATGAGACAGATGCCATCCAGCGCACAGAGGAGCTGGAGGAGGCCAA
Seq A exon
GTATGTTCCAGACTTAGTTAAAATGGAACTATAAGTTTCCTTGCTCCCAAAACATATGAAAAACTAGGGAAAAAACATTCTGGGACCATATACAGCCATATTGTTGGAATTAATGTTTTGGTAGATGCCTTAGAAGAGATTCTGAGAGGAGTTCTCGATGCAAAATGTATATTGATGTGGGAAAGCTTCTTTATTATTAATGGATTAATTAAAAACTAGCACAAATAAGGGATACAATTAGACAGACAAAATCAAGTATATTTCATTTGAATTCAATTTATCCAACATTTGAGCCCTTAATATGTTGGACAGCCTACAAGAATACAAAGATTAGTACAGTACAGACTCTCCCTCTGGGGATTAAAATTATGTGGAGACACAGAAAAACAAACCAGTAATTCAAGGTAGATATTAATATTCTACAGAAGAGGAATAAACCAGCTACCTGGAAGGGTAAAGTGTTAGCTCATGCTTGTCATGGATGGCCTTAAAGCCACTCTATGAAGTATGGCAATACCAAAACTGGGGTTGTTTTTGGTATTTGGTGGTAGGATAATGGGAATGAGTTAATATAGAACTGGACCTACAAAACAAGCTTGAGAAGCAAAGTATTAAAGAAGTCTGATTGTGGAATTCACTCTCTTGTACCCACTTTGAAACACCCAATTCAGTTGACAGCCATTCACTTTTATTGCCCATATTTCATAG
Seq C2 exon
GAAGAAGCTGGCTCAGCGTCTGCAGGATGCTGAGGAACATGTAGAAGCTGTGAATGCCAAATGTGCTTCCCTTGAGAAGACGAAGCAGAGGCTCCAGAATGAAGTTGAGGACCTCATGATTGATGTTGAGAGGACAAATGCTGCCTGTGCCGCCCTGGACAAAAAGCAAAGGAACTTTGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109061:ENST00000226207:30
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.545 A=NA C2=0.274
Domain overlap (PFAM):
C1:
PF0157614=Myosin_tail_1=FE(7.6=100)
A:
NA
C2:
PF0157614=Myosin_tail_1=FE(7.1=100),PF045827=Reo_sigmaC=PU(35.7=82.3)
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:
CACATGCCCTGCAGTCCTC
R:
CTTTGCTTTTTGTCCAGGGCG
Band lengths:
352-1060
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