Special

HsaINT0107827 @ hg19

Intron Retention

Gene
Description
myosin, heavy chain 6, cardiac muscle, alpha [Source:HGNC Symbol;Acc:7576]
Coordinates
chr14:23852434-23853926:-
Coord C1 exon
chr14:23853651-23853926
Coord A exon
chr14:23852530-23853650
Coord C2 exon
chr14:23852434-23852529
Length
1121 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCGG
5' ss Score
9.13
3' ss Seq
TCCCACCCTCCCACCCCCAGACA
3' ss Score
9.74
Exon sequences
Seq C1 exon
GCCGCCATGATGGCAGAGGAGCTGAAGAAGGAGCAGGACACCAGCGCCCACCTGGAGCGCATGAAGAAGAACATGGAGCAGACCATTAAGGACCTGCAGCACCGGCTGGACGAGGCCGAGCAGATCGCCCTCAAGGGAGGCAAGAAGCAGCTGCAGAAGCTGGAAGCGCGGGTGCGGGAGCTGGAGGGTGAGCTGGAGGCCGAGCAGAAGCGCAACGCAGAGTCGGTGAAGGGCATGAGGAAGAGCGAGCGGCGCATCAAGGAGCTCACCTACCAG
Seq A exon
GTGCGGCGGACGCCAGACACCAGGAGTAGATGTGGAAGTTTCTTCTCTGGCCCCACTGCCCCGCCCTCACAGGGCTCCTCTCACCTCCTCCTTGAGATGCTGTTGGTAGATTTAACGTTCTTCTCACGCTCTGCAGTCAGTTTGACTTGAGTCTATGAGTTTTTCCAGCAAATGAAGAATCTACTTCTACTTCCTGAAAACTCTTCTAACTAGTCTTTCCCCAGGTTTCTTTCTTTCTTTTTTTTTTTTTTTAATAACTCTAAGTGCTACCATGAAGACTTCAGAACAGTTCAAAGAATCCTTCCACCTTCGACTGTGGGGATAAGAGTCAGGGGAGGGGAAAAGACCCGGAAATCTTCCATAGAACTTCTGGCACACAAAGAGAAGGCCACAGAGAAAGAGGACCCTAGAATGCTCTAAAACCTCCACTTGCATAGCTGAGAGCTGTGCCCTTGGCCCGTTATTTTCAGTGTACCTGGGAAGAAAAGGCCAAGGAGACGAGGGTGTCAGTCCATTTGATAGATGGATACCAGAGGCACAAGAAAGAGGTTACAGATACAGAACCACAGAGTGATTTGTGGACAGAAGTAGAAATGGCATCCTGGCACATACAATGATAAAGAGATAGGAATGATCGAGTGACGTTGGAGCCAGTGATCCCGATGCCTGAATTCTGGCCCAGTACAATATATTAGAATGTAGAATAATCTGGATTATGATAATACCCCCTTCTTTCTGCATTCTTTTTCTGGTCAAGAACTACTGGCCAAGAGAACCTATGTAAGTCCAGGTTGGAGCTTTATCCACCATACTGGAGCTGGAACAGACCTGGTGCTTTTATATTACCACATTAGGGAATTCCATTAGGTTCTGAGCCCCTCCCCCTACTTCTAGCTTTATGACTTCAGCCTTCATTGCTCTGTGGATCCCTGACTGACAACCTTGCATTGCCCCTTTGACCTACGATAGAGTCAGAGAATCTTCCCCACCACCTCTTTGACCTGGATCATTGCAGGGAGGGGCAGCAAAGGCAAGGGGAGAAGAGTAAAATGATGGAGGAGGGAAAGGTGATTGCATTTGCTCCCCCTCCAAACCAGCTTCTCCCACCCTCCCACCCCCAG
Seq C2 exon
ACAGAGGAAGACAAAAAGAACCTGCTGCGGCTACAGGACCTGGTGGACAAGCTGCAACTGAAGGTCAAGGCCTACAAGCGCCAGGCCGAGGAGGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197616-MYH6:NM_002471:36
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.826 A=NA C2=0.219
Domain overlap (PFAM):

C1:
PF0157614=Myosin_tail_1=FE(10.6=100)
A:
NA
C2:
PF0157614=Myosin_tail_1=FE(3.6=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAGGAGCTGAAGAAGGAGCA
R:
CGCTTGTAGGCCTTGACCTTC
Band lengths:
342-1463
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