HsaINT0108979 @ hg38
Intron Retention
Gene
ENSG00000169994 | MYO7B
Description
myosin VIIB [Source:HGNC Symbol;Acc:HGNC:7607]
Coordinates
chr2:127631600-127632401:+
Coord C1 exon
chr2:127631600-127631753
Coord A exon
chr2:127631754-127632245
Coord C2 exon
chr2:127632246-127632401
Length
492 bp
Sequences
Splice sites
5' ss Seq
CAGGTCTGC
5' ss Score
5.61
3' ss Seq
TGACAAGTGCTACCCTTCAGGCA
3' ss Score
3.63
Exon sequences
Seq C1 exon
CCATCCTCCGGTACATGGGCGACTACCCTTCTCGGCAGGCCTGGCCCACCCTGGAGCTCACCGACCAGATCTTCACACTGGCCCTGCAGCACCCGGCCCTCCAGGACGAGGTCTACTGCCAGATCCTGAAGCAGCTGACGCACAACTCCAACAG
Seq A exon
GTCTGCTGGGGCGGCGGCCAGCCCACGCGGGCACCCTCAGTCCTCATCCCGGCCCCTGAGGCCAGACCGAGGCTCAGAGAGGACACCGCAGCTGGTGGCGGCAGAACCCCTGCCTGGGCTCCTGCCTCAGCAGTGGGAAGGGTTGGGCCCTTGGTCTGCTCTGCTGATGTCCTAGGGGTGGTCAGAGCAGGAGAGGATGGCCCTGCCCACTCCCACCCTCTGTGTGTGACCTGGCAGGCCATGACCTCTCTGAGCTTCAGTGTCGTCTTCCACAAAATGGGTGCAATGCCCACCCGCCCCCATCTTGAGGGTGTGAAAGCCCGTGGCATCGGGCAGCCTGGCACAGCTGGCATGGTGCAGCCTGGCAGGTGCCCTCCCCCTCGGGCCCTCTAGACCCCAGGCAGCTCTCACATCCGTCCCTGCTCCCCAAGGTGCCTGCCTGGCCAGGGCCCCCTGAGGGGCCTTTCCCGGCTGACAAGTGCTACCCTTCAG
Seq C2 exon
GCACAGCGAAGAGCGGGGCTGGCAGCTGCTGTGGCTGTGCACGGGCCTCTTCCCGCCCAGCAAGGGGCTGCTGCCCCATGCCCAGAAGTTTATAGACACTCGGAGGGGGAAGCTGCTGGCCCCCGACTGCAGCCGCCGAATCCAGAAGGTCCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169994:ENST00000409816:36
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=0.057
Domain overlap (PFAM):
C1:
PF0078412=MyTH4=PU(34.0=69.2)
A:
NA
C2:
PF0078412=MyTH4=FE(49.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATCCTCCGGTACATGGGC
R:
CTCAGGACCTTCTGGATTCGG
Band lengths:
310-802
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