HsaINT0107813 @ hg38
Intron Retention
Gene
ENSG00000197616 | MYH6
Description
myosin heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:7576]
Coordinates
chr14:23392912-23393518:-
Coord C1 exon
chr14:23393342-23393518
Coord A exon
chr14:23393058-23393341
Coord C2 exon
chr14:23392912-23393057
Length
284 bp
Sequences
Splice sites
5' ss Seq
GATGTGAGT
5' ss Score
7.77
3' ss Seq
TATTTTCTTCCCTCCAACAGCTG
3' ss Score
9.85
Exon sequences
Seq C1 exon
GTGAAGAACCTAACAGAGGAGATGGCTGGGCTGGATGAAATCATCGCTAAGCTGACCAAGGAGAAGAAAGCTCTACAAGAGGCCCATCAGCAGGCCCTGGATGACCTTCAGGTTGAGGAAGACAAGGTCAACAGCCTGTCCAAGTCTAAGGTCAAGCTGGAGCAGCAGGTGGATGAT
Seq A exon
GTGAGTAGTAAGAACCATGCTCCTGCTCTCAGAGCAAGATTTTGCAGGCAACACCAATGGCCCAGAAAGTCCTGATCCCTAGAATTAACTTCTATGGCCCCTGAAGCTTTTTTGCTCTCTGTAGTTCCTCACTACAGTAGGTCTCTGAATCCTTTGTGCTTGCAGGATTTCTCTGTTGGTTTGACTTCCAATCCCACTGGACTTCAAGTTTAGAAGGAGGCAAAAGAGCATACACTATGGATTTCATGTTTTCCACACTTTGCTTATTTTCTTCCCTCCAACAG
Seq C2 exon
CTGGAGGGATCCCTAGAGCAAGAGAAGAAGGTGCGCATGGACCTGGAGCGAGCAAAGCGGAAACTGGAGGGCGACCTGAAGCTGACCCAGGAGAGCATCATGGACCTGGAAAATGATAAACTGCAGCTGGAAGAAAAGCTTAAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197616:ENST00000356287:22
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.407 A=NA C2=0.224
Domain overlap (PFAM):
C1:
PF0157614=Myosin_tail_1=FE(29.6=100),PF0157614=Myosin_tail_1=PU(44.6=49.2)
A:
NA
C2:
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)
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:
GGCTGGGCTGGATGAAATCAT
R:
AGCTTTTCTTCCAGCTGCAGT
Band lengths:
294-578
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