HsaINT0107814 @ hg19
Intron Retention
Gene
ENSG00000197616 | MYH6
Description
myosin, heavy chain 6, cardiac muscle, alpha [Source:HGNC Symbol;Acc:7576]
Coordinates
chr14:23861771-23862266:-
Coord C1 exon
chr14:23862121-23862266
Coord A exon
chr14:23861862-23862120
Coord C2 exon
chr14:23861771-23861861
Length
259 bp
Sequences
Splice sites
5' ss Seq
GAAGTAGGA
5' ss Score
2.43
3' ss Seq
CCCCCACCCTTCTCCTGCAGGAA
3' ss Score
12.41
Exon sequences
Seq C1 exon
CTGGAGGGATCCCTAGAGCAAGAGAAGAAGGTGCGCATGGACCTGGAGCGAGCAAAGCGGAAACTGGAGGGCGACCTGAAGCTGACCCAGGAGAGCATCATGGACCTGGAAAATGATAAACTGCAGCTGGAAGAAAAGCTTAAGAA
Seq A exon
GTAGGAGACTGTGGTGGCCAGGAGGGGCTAATGGAGGTGTCTGGCCTGGTAGATAGAGTGCAGGGTGCTGCGCCTCCACTGGCCACAGTTGCCTTGGGTATGCTGGGAATAAGGTCAATCACAGCCCTCTTCCGCCACTTTCTGGGCTGGCGAGGGGAGGGGGAGGTGCCGATTCTGGCATACTAAGGCCAAGAAGAGAATGAGCCCCAGAGGAAGGAAGGCTACCTGTCACTCCCCCACCCCCACCCTTCTCCTGCAG
Seq C2 exon
GAAGGAGTTTGACATTAATCAGCAGAACAGTAAGATTGAGGATGAGCAGGTGCTGGCCCTTCAACTACAGAAGAAACTGAAGGAAAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197616-MYH6:NM_002471:24
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.224 A=NA C2=0.065
Domain overlap (PFAM):
C1:
PF0157614=Myosin_tail_1=PD(0.5=2.0),PF0157614=Myosin_tail_1=PD(52.3=69.4),PF0157614=Myosin_tail_1=PU(1.6=28.6)
A:
NA
C2:
PF0157614=Myosin_tail_1=FE(3.5=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGGATCCCTAGAGCAAGAGA
R:
TGGTTTTCCTTCAGTTTCTTCTGT
Band lengths:
232-491
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)