HsaINT0107830 @ hg38
Intron Retention
Gene
ENSG00000197616 | MYH6
Description
myosin heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:7576]
Coordinates
chr14:23405223-23405770:-
Coord C1 exon
chr14:23405627-23405770
Coord A exon
chr14:23405380-23405626
Coord C2 exon
chr14:23405223-23405379
Length
247 bp
Sequences
Splice sites
5' ss Seq
TATGTGAGT
5' ss Score
5.56
3' ss Seq
AGCCTTGTCTCCTGCTCCAGACC
3' ss Score
7.03
Exon sequences
Seq C1 exon
ACGGTGACTGTGAAGGAGGACCAGGTGTTGCAGCAGAACCCACCCAAGTTCGACAAGATTGAGGACATGGCCATGCTGACCTTCCTGCACGAGCCCGCGGTGCTTTTCAACCTCAAGGAGCGCTACGCGGCCTGGATGATATAT
Seq A exon
GTGAGTGGCTCCTGCACACTGCAGAGGCTTCCTGTGCTGCGTGGAGGCCTAAATAAGCCAGGGGGGCTCTCCCAAGAAGAGGGGGAGAGACTCCCAAGGGACCCAAGTCCCCTTCCCCCCTCCACCCCTAGTCAGCTGCAGGAGGAGTAGAGCCAGCTGGAGTGAACAGGGACATGCCTGGCTGCCACCACTGCCTGTCCCAGGCTCTCCCCACCAACCTCATGCCCAGCCTTGTCTCCTGCTCCAG
Seq C2 exon
ACCTACTCGGGCCTCTTCTGTGTCACTGTCAACCCCTACAAGTGGCTGCCGGTGTACAATGCCGAGGTGGTGGCCGCCTACCGGGGCAAGAAGAGGAGTGAGGCCCCGCCCCACATCTTCTCCATCTCCGACAACGCCTATCAGTACATGCTGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197616:ENST00000356287:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.125 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
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGGTGACTGTGAAGGAGGAC
R:
TGTACTGATAGGCGTTGTCGG
Band lengths:
292-539
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