Special

HsaINT0107683 @ hg38

Intron Retention

Gene
Description
myosin heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:7572]
Coordinates
chr17:10539928-10540697:-
Coord C1 exon
chr17:10540594-10540697
Coord A exon
chr17:10540067-10540593
Coord C2 exon
chr17:10539928-10540066
Length
527 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGT
5' ss Score
9.11
3' ss Seq
CCTATTGGTTATATTGACAGAGT
3' ss Score
3.07
Exon sequences
Seq C1 exon
AAATGCTTCTGATTACCACGAACCCATATGATTACCCATTTGTCAGTCAAGGGGAGATCAGTGTGGCCAGCATCGATGATCAGGAAGAACTGATGGCCACAGAT
Seq A exon
GTAAGTAGAACACAAGAAAATTGGAATTATTATGGTGGGTCAGAGTAATGGTGATCCAGATAAATATTCAGTGTCTAGTAGAAATGGCAAAAGAAGATTCCAGGATGCAAATGGACATGCCCCTTGGAGTCAAATGAAAAGAGTATGATGTGCCCCTATAACATTTTGCTTACCCCTTACATTGTTCTAAAGATCTATCATTTCTGAAAATTTCTAAACTATTTTTTTTTTTTTGCAATTGACTTGCATTAGATTCCTACCATCTCTCAAAATAACAAGTTCCTTAGATTTACTATCTTTGTTCTCTGTTCTAAGTTCCCGTTTTGAATCTTCAGAGGGTATGCACCTATAATTCTAATGCTCTGTGCTGGCCTTTGGTTGACCAACTCTCTATATACCCAATCTAAGGGGTTCCTTGTCTCCCATTAGCACTGGTAGTTTCCTCAGGCCAGCAATGGGAATGTGCAGTATTAACAGTAAGCGTGTGGATCACAACCTAACAGCTATCCTATTGGTTATATTGACAG
Seq C2 exon
AGTGCTATTGATATTTTGGGCTTTACTAATGAAGAAAAGGTCTCCATTTACAAGCTCACGGGGGCTGTGATGCATTATGGGAACCTAAAATTTAAGCAAAAGCAGCGTGAGGAGCAAGCAGAGCCAGATGGCACAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414:ENST00000245503:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.277
Domain overlap (PFAM):

C1:
PF0006316=Myosin_head=FE(5.0=100)
A:
NA
C2:
PF0006316=Myosin_head=FE(6.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTCTGATTACCACGAACCCA
R:
CATCTGGCTCTGCTTGCTCC
Band lengths:
230-757
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