HsaINT0107830 @ hg19
Intron Retention
Gene
ENSG00000197616 | MYH6
Description
myosin, heavy chain 6, cardiac muscle, alpha [Source:HGNC Symbol;Acc:7576]
Coordinates
chr14:23874432-23874979:-
Coord C1 exon
chr14:23874836-23874979
Coord A exon
chr14:23874589-23874835
Coord C2 exon
chr14:23874432-23874588
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-MYH6:NM_002471:4
Average complexity
IR-S
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)