HsaINT0107820 @ hg19
Intron Retention
Gene
ENSG00000197616 | MYH6
Description
myosin, heavy chain 6, cardiac muscle, alpha [Source:HGNC Symbol;Acc:7576]
Coordinates
chr14:23874836-23876445:-
Coord C1 exon
chr14:23876232-23876445
Coord A exon
chr14:23874980-23876231
Coord C2 exon
chr14:23874836-23874979
Length
1252 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
TGCTTATGCGCCCCCTCCAGACG
3' ss Score
6.77
Exon sequences
Seq C1 exon
GGGAAGCACCAAGATGACCGATGCCCAGATGGCTGACTTTGGGGCAGCGGCCCAGTACCTCCGCAAGTCAGAGAAGGAGCGTCTAGAGGCCCAGACCCGGCCCTTTGACATTCGCACTGAGTGCTTCGTGCCCGATGACAAGGAAGAGTTTGTCAAAGCCAAGATTTTGTCCCGGGAGGGAGGCAAGGTCATTGCTGAAACCGAGAATGGGAAG
Seq A exon
GTGAGTAGGGCATGGCGCCGGGGCAGAAGGGAAGGAGGTCTGGGAAAGAAGATGCAGAGGTGGAGCCACTTGCAGGGGGAGCTGAGAGGGCTGGAGAAAAGCCAAGGCCAGTGGGGATGCCAGGACATGCTCCTTTGAGGAGCCCAGAATCTGATCCCTCTCAAATTGACCTGAGCTGGTGCAACAGGTGCCACCCAGGGCCATGTTCCCCCTGCCAGAGAGGATGCTGAGGAAGAAGAACCTCAGTGTTCGCCTAAGAGGGGTCTTGTAGATAAAGAGGGCACAGACACAGCATTAAATGATGCCCCCTTCTTGCACTTGTATCCCTCTTCCCTGTGCCTCAGTTTCCTCCATGAGTCCACTTTCTCAAATTCCGTTCACCCAAATCAAGAGTAATTCTTAGACCCAGATGAACACAAAGATCAGAAACTTTTGAGCTGAGCACTCTCCTTGACTGGCACTCAGAAGCTCTGGTCCCTGGTTTGCTCACACCAGCCAAGAGAATCACCCCTGGTTACCAGCTGCGGCTCAGGGCTGTGTGCCTCATGAACTCGTTGACTGAATGTTACAACCCATTGAAGTGTAGAATAACAGGCCACAATCCCCTGGGGCTTTTGACTCTGATCCCAGCTCTGCCACCCGCTAGTCACTGTGCAGGCAAATCATTTAGTCATTTAGAGCCACGGATTTCTCCACTATAAAAAACACTGGAATACCTACTGGCAGGATCTAATGACATCAGGGCATGGCAAACTGACTGCTGCCAATCAAACCACACCAACAGTGATGGATGGGGAGTGTGGAGTAGATGGGTGAACTACTTTTCCAGCAGGGGTGAAGGTTTGCCCTGAGCAACAGATACCCTAAAGCGCTGCCCGCGGGAGACAGCCTCGGGGTCAGCATAAGGTGTGCACAGATCTGAGAGCTGCCAATCTCCAGGTCTGCCCCAAGACCCTTGGAACATAGGGACTGAAGAGTGATGGTCATGGGCACAGGGTGTCCCCAGGATGGTCTGGGGATCTGGCAAGAGAAAGGTACCCTAGGACAGTCTCTAGGATGGGAGATACAATGGGAAGGGAAATTACCTGGGGAAAGTGTCCCAGGGGACATCGGGGTAGGGGCCGGGGCACTGGTCAGAGCAAGGGGAGCAAGGCCAAGTCCCTGTGTCCTGGGAGGAGGTCAGTGGGCAGTGCTGGCAAGGGTCCCGGAGGGATTGTGGTCACTCATCCTCCTGCTTATGCGCCCCCTCCAG
Seq C2 exon
ACGGTGACTGTGAAGGAGGACCAGGTGTTGCAGCAGAACCCACCCAAGTTCGACAAGATTGAGGACATGGCCATGCTGACCTTCCTGCACGAGCCCGCGGTGCTTTTCAACCTCAAGGAGCGCTACGCGGCCTGGATGATATAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197616-MYH6:NM_002471:3
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.060 A=NA C2=0.125
Domain overlap (PFAM):
C1:
PF0273614=Myosin_N=PU(78.6=49.3)
A:
NA
C2:
PF0273614=Myosin_N=PD(16.7=14.6),PF0006316=Myosin_head=PU(4.1=58.3)
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:
AAGCACCAAGATGACCGATGC
R:
TATATCATCCAGGCCGCGTAG
Band lengths:
354-1606
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)