HsaINT0107703 @ hg38
Intron Retention
Gene
ENSG00000125414 | MYH2
Description
myosin heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:7572]
Coordinates
chr17:10547475-10547940:-
Coord C1 exon
chr17:10547717-10547940
Coord A exon
chr17:10547619-10547716
Coord C2 exon
chr17:10547475-10547618
Length
98 bp
Sequences
Splice sites
5' ss Seq
GCGGTGAGT
5' ss Score
10.49
3' ss Seq
TTATCTTTCCTGTTTACCAGACT
3' ss Score
8.5
Exon sequences
Seq C1 exon
GACCTCTGAGTTCAGCAGCCATGAGTTCAGACTCAGAATTGGCTGTTTTTGGGGAGGCTGCTCCTTTCCTCCGAAAGTCTGAAAGGGAGCGCATTGAGGCCCAGAATAGGCCCTTTGATGCCAAAACATCTGTCTTTGTGGCGGAGCCCAAAGAATCCTTTGTCAAAGGGACCATCCAGAGCAGAGAAGGAGGAAAAGTGACGGTGAAGACTGAGGGAGGAGCG
Seq A exon
GTGAGTAGAATCCCAGGAGCTTGCCACATTTTATTGATTTTTGTTGTTGTTGTTTGGTCACTCAATTAATGTAAACGGTTATCTTTCCTGTTTACCAG
Seq C2 exon
ACTCTGACAGTGAAGGATGATCAGGTCTTCCCCATGAACCCTCCCAAATATGACAAGATCGAGGATATGGCCATGATGACTCATCTGCATGAGCCTGCTGTGCTGTACAACCTCAAAGAACGTTATGCAGCCTGGATGATCTAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414:ENST00000245503:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.176 A=NA C2=0.040
Domain overlap (PFAM):
C1:
PF0273614=Myosin_N=PU(78.6=48.5)
A:
NA
C2:
PF0273614=Myosin_N=PD(16.7=14.6),PF0006316=Myosin_head=PU(29.5=58.3)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAAAGGGACCATCCAGAGCA
R:
GAGGTTGTACAGCACAGCAGG
Band lengths:
176-274
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