Special

HsaINT0107910 @ hg38

Intron Retention

Gene
Description
myosin heavy chain 7B [Source:HGNC Symbol;Acc:HGNC:15906]
Coordinates
chr20:35000988-35001349:+
Coord C1 exon
chr20:35000988-35001158
Coord A exon
chr20:35001159-35001244
Coord C2 exon
chr20:35001245-35001349
Length
86 bp
Sequences
Splice sites
5' ss Seq
AAGGTGTGT
5' ss Score
6.64
3' ss Seq
GGCTGTCCCCCTGCCTGCAGGTA
3' ss Score
10.83
Exon sequences
Seq C1 exon
GCGGCCATGATGGCCGAGGAGCTGAAGAAGGAGCAGGACACAAGTGCACACCTGGAACGGATGAAGAAGACGCTGGAGCAGACGGTGCGCGAGCTCCAGGCCCGCCTTGAGGAGGCAGAACAGGCCGCCCTCCGTGGCGGGAAGAAGCAGGTGCAGAAGCTGGAGGCCAAG
Seq A exon
GTGTGTGCAGCCCCTCTAGTCCTTGGCGCAGGCAGGGTGGGTGACCCAGGGGTGGGCTTGGCATCAGGCTGTCCCCCTGCCTGCAG
Seq C2 exon
GTACGGGAGCTGGAGGCTGAGCTTGATGCAGAGCAGAAGAAGCACGCCGAGGCCCTTAAGGGCGTGCGCAAGCATGAGCGCCGTGTCAAGGAGCTCGCATACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078814:ENST00000262873:39
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.842 A=NA C2=0.927
Domain overlap (PFAM):

C1:
PF0157614=Myosin_tail_1=FE(6.5=100)
A:
NA
C2:
PF0157614=Myosin_tail_1=WD(100=42.6),PF117273=ISG65-75=PU(46.7=45.7),PF0157614=Myosin_tail_1=PU(46.2=38.3),PF0026115=Tropomyosin=PU(38.9=37.2),PF150351=Rootletin=PU(43.6=36.2)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACACAAGTGCACACCTGGAA
R:
CTCTGCATCAAGCTCAGCCTC
Band lengths:
168-254
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development