Special

HsaINT0107707 @ hg19

Intron Retention

Gene
Description
myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]
Coordinates
chr17:10428074-10428665:-
Coord C1 exon
chr17:10428541-10428665
Coord A exon
chr17:10428383-10428540
Coord C2 exon
chr17:10428074-10428382
Length
158 bp
Sequences
Splice sites
5' ss Seq
GAGGTACAT
5' ss Score
6.75
3' ss Seq
CACCTCTTGCTGTCATTAAGGCA
3' ss Score
4.15
Exon sequences
Seq C1 exon
AGGAGATTTCTGACCTCACGGAACAGATTGCAGAAGGAGGGAAACGTATCCATGAACTGGAGAAAATAAAGAAACAAGTGGAACAAGAAAAGTGTGAACTTCAGGCTGCTTTAGAAGAAGCAGAG
Seq A exon
GTACATGTAAAATTGTGCATTATAAAAAAATCTGGAAAATAATTAGGTACATCTGCATAGAGTGAATAAAAAGACACATAGCACAAAATTATTGCTGTGCAGAAAAACTTCATAAAGCTTTTGGTTCCTTGCTAATGTCACCTCTTGCTGTCATTAAG
Seq C2 exon
GCATCTCTTGAACATGAAGAGGGAAAGATCCTGCGCATCCAGCTTGAGTTGAACCAAGTCAAGTCTGAGGTTGATAGGAAAATTGCTGAAAAAGATGAGGAAATTGACCAGCTGAAGAGAAACCACATTAGAATCGTGGAGTCCATGCAGAGCACGCTGGATGCTGAGATCAGGAGTAGGAATGATGCCATTAGGCTCAAGAAGAAGATGGAGGGAGACCTCAATGAAATGGAAATCCAGCTGAACCATGCCAACCGCATGGCTGCTGAGGCCCTGAGGAACTACAGGAACACCCAAGGCATCCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125414-MYH2:NM_001100112:33
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.214 A=NA C2=0.165
Domain overlap (PFAM):

C1:
PF0157614=Myosin_tail_1=FE(4.8=100),PF045827=Reo_sigmaC=PD(23.5=85.7)
A:
NA
C2:
PF0157614=Myosin_tail_1=FE(11.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACCTCACGGAACAGATTGC
R:
TGTGGTTTCTCTTCAGCTGGT
Band lengths:
242-400
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