Special

HsaINT0107445 @ hg38

Intron Retention

Gene
Description
myosin heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:7567]
Coordinates
chr17:10496241-10497193:-
Coord C1 exon
chr17:10497069-10497193
Coord A exon
chr17:10496550-10497068
Coord C2 exon
chr17:10496241-10496549
Length
519 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGC
5' ss Score
9.85
3' ss Seq
CACCTCTTGCTGTCATTAAGGCA
3' ss Score
4.15
Exon sequences
Seq C1 exon
AGGAGATTTCTGATCTCACTGAACAGATTGCAGAAGGAGGAAAGCGCATCCATGAACTGGAAAAAATAAAGAAGCAAGTTGAGCAAGAAAAGTCTGAACTTCAGGCTGCCTTAGAGGAGGCAGAG
Seq A exon
GTAAGCATTTTATTGCATACTCTAAAACAATTAGAAGAGGAATTGGGGTCTATTAAATGTAAGGAATGGTGAATCAAGAGAAACGAAAAATAATTTTTGCTCCATGAACTAGGGATGAGAATGGAGAACTGATCATGCATACAACCAACATAACCATATGTCAGGAACTGTGCTACACACTGAGCAAACAAAGATGAATCAGTTAAAGGCCCTGCTTTCAAGGGCACAATCTACCTAGGGAGATAAAAGCATATAAAATCAACAATAACATTCAATAATTTGTAGAAATGTCTAAAACAACAAAATAAAAATGTATGATGGCAGCACAAAGGCAGACAGTGTGTGTGTTAGAGAATAGCAAGAAAATGCAAAGGCATGAAAATGACACTCTTGTTTAAATCTTACTACTACTTAGAAATCTATTTATAAATAAGGTTTCATGAATGATAAATCATTCTTATCTCTAGAATACTACACACTTCCATTACTCTACTAATGTCACCTCTTGCTGTCATTAAG
Seq C2 exon
GCATCTCTTGAACATGAAGAGGGAAAGATCCTGCGCATCCAGCTTGAGTTGAACCAAGTCAAGTCTGAGGTTGATAGGAAAATTGCTGAAAAAGATGAGGAAATTGACCAGATGAAGAGAAACCACATTAGAATCGTGGAGTCCATGCAGAGCACACTGGATGCTGAGATCAGGAGCAGGAATGATGCCATTAGGCTCAAGAAGAAGATGGAGGGAGACCTCAATGAAATGGAAATCCAGCTGAACCATGCCAACCGCATGGCTGCTGAGGCCCTGAGGAACTATAGGAACACCCAAGCCATCCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000109061:ENST00000226207:33
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.452 A=NA C2=0.340
Domain overlap (PFAM):

C1:
PF0157614=Myosin_tail_1=FE(4.8=100),PF045827=Reo_sigmaC=PD(24.5=83.3)
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:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGGAAAGCGCATCCATGAA
R:
GTTGGCATGGTTCAGCTGGAT
Band lengths:
345-864
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