Special

HsaINT0107694 @ hg38

Intron Retention

Gene
Description
myosin heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:7572]
Coordinates
chr17:10531633-10533421:-
Coord C1 exon
chr17:10533285-10533421
Coord A exon
chr17:10531889-10533284
Coord C2 exon
chr17:10531633-10531888
Length
1396 bp
Sequences
Splice sites
5' ss Seq
AAGGTATAA
5' ss Score
7.08
3' ss Seq
TTGCATCAATTAAATTTCAGGGA
3' ss Score
7.02
Exon sequences
Seq C1 exon
GTCTTTTTCAAAGCTGGTCTTCTGGGGCTCCTAGAGGAGATGCGAGATGACAAGCTGGCCCAGCTGATTACCCGAACCCAGGCCAGGTGCAGAGGGTTCTTGGCAAGAGTGGAGTACCAGAGGATGGTGGAGAGAAG
Seq A exon
GTATAAAAAATATGTTTATTCACATATTCCATCTTCAAAAACATATTTGAAATGGCTTACAGTTAAGACTCAGCTTATGATAAGGACACTAAAGAAGAAATGAATAAGAGTCCTATAATGAAGTGGGAATACACATGTACCAGAAAACTTAAGGAAGGAACCATCACCATCTGATTGCATGGGTAAAAACTTGAGAAGTTAGGTAAGAAGTGTGTACTTCTTATCTAATAAGATAAAATACACCAGTGAGTAAGCAGAAGCAAACTTTTGCCCTAGCACCTGTTTCTAATATGAATTTATTGGACAGATCATTAGATAAGGGACATTGACCTGCAAAACAGACAGTATACTCAAGAGTGCTTTTACACAGGCTGTAGAGACAACTTTTTCCCTCTGATCATTTATATTATCAAACTCTCATGATTTAAAATATTAGGGGCCATTTATCTGTGAAAGACTTTTTGCAGTAAGTTAACACAATGCATCAGGGAATGTAGCTATTTGGTGATCTAATTTGATGCAAGGACAGAGTTCAAAGACTATAGAGCCAGGTGTCTCAAAGTACAGGATGTCTGTGATCAGGACCATTTCTCCATGTTGAGAAAGGCATTTTACATTGCCACCTATACATCTACACATATACATATGTGTATGCAGATATATAAATAATTTATATGAAGCAAATTTTATTTTTACCACTTGTAATTATGCTAATATTTTCAACTATATTCCATTTTATTAAAAATAATAAATTTTGGTCATGATCCACGATATATATATATTTGGGTAATTGTCTATATATGGGGTAATTAGCTGTAAAAATCATTTAGATGAAAACAAAAGTGGTATTAGAGAATAGAATACAAAATTCACACAACATTAACATATAAAGCCAGATATTTTCTAAGAAATTCTGAGTTTTTAATATCTCCTGCCCCATATACCCCTAAAGAGCTGTGTTCCCCCTTCACTGCCCTTAGTGGTGTTTTAGTAGCAATGTTTGAGAAGCACTGACATACAGCAAGGCTTCTCAAAGGGTGCTCCTTGGACTTGCAACATCAGCATTTCTTGCAAACTTGTTAAAAGTGCCAATTTTCAGGCTCCACCCTAGATCTTCTGAATCTGAATCTGAATCTACGGAGGTGAGGTTCAGGAGTCAGTATTTTAACAAGCCCTTCAGGTGATTCTTATGCATGCCAAAGTTTGAGAAGCAGTGATGTAGAGAAATGAGTGACCTTAGCAAGACCTTGACCATCATCCCGAAATAGAATTTTTTCATCTGCATGTTTGAAAGCAGAGTAGGAACAAGGTGAAGCAGAACCTCCAACTCTCACTGCCAAGGTTTCATCCCATTGCATCAACCACACAATACTAATTTGCATCAATTAAATTTCAG
Seq C2 exon
GGAGGCCATCTTCTGTATCCAGTACAATATCAGATCCTTCATGAATGTCAAGCACTGGCCCTGGATGAAACTCTTCTTCAAGATCAAGCCTCTGTTGAAGAGTGCAGAAACTGAGAAGGAGATGGCCACCATGAAGGAAGAATTTCAGAAAATTAAAGACGAACTTGCCAAGTCAGAGGCAAAAAGGAAGGAACTGGAAGAAAAGATGGTGACGCTGTTGAAAGAAAAAAATGACTTGCAGCTCCAAGTTCAGGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414:ENST00000245503:21
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=0.023
Domain overlap (PFAM):

C1:
PF0006316=Myosin_head=PD(0.4=6.5)
A:
NA
C2:
PF0157614=Myosin_tail_1=PU(30.8=61.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
AGATGCGAGATGACAAGCTGG
R:
CCTGAACTTGGAGCTGCAAGT
Band lengths:
354-1750
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