HsaINT0107812 @ hg19
Intron Retention
Gene
ENSG00000197616 | MYH6
Description
myosin, heavy chain 6, cardiac muscle, alpha [Source:HGNC Symbol;Acc:7576]
Coordinates
chr14:23862551-23863117:-
Coord C1 exon
chr14:23862875-23863117
Coord A exon
chr14:23862728-23862874
Coord C2 exon
chr14:23862551-23862727
Length
147 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
GATGGGTTTTTGGTCGGCAGGTG
3' ss Score
6.85
Exon sequences
Seq C1 exon
GAACAAGACAACCTCAATGATGCTGAGGAGCGCTGCGACCAGCTGATCAAAAACAAGATTCAGCTGGAGGCCAAAGTAAAGGAGATGAATGAGAGGCTGGAGGATGAGGAGGAGATGAACGCGGAGCTCACTGCCAAGAAGCGCAAGCTGGAAGACGAGTGCTCAGAGCTCAAGAAGGACATTGATGACCTGGAGCTGACACTGGCCAAGGTGGAGAAGGAGAAGCATGCAACAGAGAACAAG
Seq A exon
GTGAGGGCAGCTCCCTCTGGCTTCAGCCCAGGTCTCCTCAAGACTCCCAGACTAGAGTGTTGTCCTGGTCCTTGGCATGGAGGTCCCCATAGATGTCTCCAGGCTGGTGATCTTTGACCCTAAAGGGGATGGGTTTTTGGTCGGCAG
Seq C2 exon
GTGAAGAACCTAACAGAGGAGATGGCTGGGCTGGATGAAATCATCGCTAAGCTGACCAAGGAGAAGAAAGCTCTACAAGAGGCCCATCAGCAGGCCCTGGATGACCTTCAGGTTGAGGAAGACAAGGTCAACAGCCTGTCCAAGTCTAAGGTCAAGCTGGAGCAGCAGGTGGATGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197616-MYH6:NM_002471:22
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.481 A=NA C2=0.407
Domain overlap (PFAM):
C1:
PF0157614=Myosin_tail_1=FE(40.8=100)
A:
NA
C2:
PF0157614=Myosin_tail_1=FE(29.6=100),PF0157614=Myosin_tail_1=PU(44.6=49.2)
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:
GAGAGGCTGGAGGATGAGGAG
R:
TGCTGATGGGCCTCTTGTAGA
Band lengths:
245-392
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)