HsaINT0108952 @ hg38
Intron Retention
Gene
ENSG00000169994 | MYO7B
Description
myosin VIIB [Source:HGNC Symbol;Acc:HGNC:7607]
Coordinates
chr2:127582304-127584332:+
Coord C1 exon
chr2:127582304-127582446
Coord A exon
chr2:127582447-127584121
Coord C2 exon
chr2:127584122-127584332
Length
1675 bp
Sequences
Splice sites
5' ss Seq
TAGGTATGA
5' ss Score
6.99
3' ss Seq
CAGTGACCTTGCCTCCACAGCTT
3' ss Score
7.06
Exon sequences
Seq C1 exon
GGCATCTATGGGCACCTCTTCCTGTGGATTGTCAAGAAGATCAATGCCGCCATCTTCACACCACCAGCCCAGGACCCCAAAAATGTGCGGAGGGCCATCGGCCTCCTGGACATATTTGGCTTTGAAAATTTCGAGAACAATAG
Seq A exon
GTATGAAGATCTCAGATCCCAGCCCCACTGCTTCCAGAAAACAGAAGATAAGCAGCTCCTCTCGAAGGGGGCAAGTTGGAGGGGAGCCGTCACCCTGCACCCAGGCCTGGCGAGTCCCACCAGATCCGTGTGCTCTGCATGGGGTGGCTGCTGTCCCCTGCCATCTAGAGAAGGCTGCACAACTAAAAGCTGTCCCTGAGAGCCGGGCTAAGGCCCCGGCATTTGTCACCCTTCTTGGGCCACCTGCTGTCCTCATGAGCCAGAGTGGATTATCACACGAGGTCAGGGTTGAAACAGAAATCAATAACATGGATTCATCTGCATCTGGCTGGTTTATCATTTTAGGTAGTGGGGGAAGCTAGAAGCATTTGCAGACCATCCCTGATTTTTTAGTTTGTGGGGTAAGGCACAGCAGGACTCCTCTGACCGGGCATCCCAGTGTTCTGGCACCCCAGACTAGAAGCTGGAGAGCTGTAACCAGGAGGCAGGTCAGAAAATAGCTGCAAGCTATGACTGTGATGAAGGCTGGGGGTCGGATAGACAAAGGTGGTGAGGGGACCAGGCAACGGAGCCAGGCCAGGCCAGGTGATGCTCAGGGGCACTATCACCAGCAAGAGGAGTCCCATGACGACTGGTACAAGCAGGCTGACAACACTAGCTTTGCAATTTAGCTTACCTGAGCCAGCTCACTGAAAGGGCTTGATGGGACAGAGACCGGACCACTGGCTCCAGGAAGCAGAGCTCCTCTGGGCCCTGTCTGAGGAGCCAGGGGGCTAGCCTGACCTTGCATGCCCCTGCCCAAGGCCTGTCTGATCTGAGAGTGATTTAGAAGGGCCCCCCTTGGACAGCCAGGATTGTCAAGACACAAGCCATTCCACACGCAAGCACGCTGGGATCTCAGCCCTCCCAGGGCCAGCCGGGGGTGCAGGGCAGGTGCCTGCTCACTGCAGTCAGGTGGGAGAGGCAGGGCTGGCAGAACTTAGCCCAATGCACTCTCTAAGGCATAGAGAGCTCAAGTGTGATTCCGATTATTGGCGTCTGGCCCTGGGAGGGACAGGTATTGGAGACAGCATGGGCCAGACTTTGGCAACTGATGGGAACTGGAGAGGAGGGACAGAGACAGAAACTCCTCGGTTTCTGACTTGAGCCGGGGGTGGTAGGTGGAGGGGCCATTTCCCAAGGCAGGGAATGCAGGAGGAAGTGCAGGTTGGAGTTCTGGGAACAGGGGCAGTAGGGCGTATGCCTGGTTGATGCAGAGGGGCCCAGCAGTCAATGCTGGGTCTCTGGAAGCTTGTCTCAATACCAAGGCTCACGGGTAGGGCTGCTGGTGTGCACTCAGACCACAAGAATTGTTTCAGTGTCAGGTGGGCAGGCCTGGTAGAGGACCCGGCAGGGGGCTGTGAGAAGCTGAAGGCGAGGACTTGATGATATGCTGAGCCTCCTCGTTTCTTTGTCTTTTTGACGTGGGGTGGAGAAGGTGACAGTGATGGAGGCAGACAGAGGAGAGAGAGTGTGCAGGAATGAGTGTGCATCTCTGTGTACACGAGGTGTGCATCTGTGGGCATATCTGTATGCAGCTGTTTGCAGATGGCTGGTGATCCTATGGCTCCAGCCTGCTGCAGCGGGGACTCAGCTGGCCCCACTCCACCCCTGGGCAGTGACCTTGCCTCCACAG
Seq C2 exon
CTTCGAGCAGCTCTGCATCAACTTCGCCAACGAGCACCTGCAGCAGTTCTTTGTGCAGCACGTGTTCACCATGGAGCAAGAGGAGTACCGCTCGGAGAACATCTCCTGGGACTATATCCACTACACCGACAATCGGCCCACCCTGGACCTGCTGGCCCTCAAGCCCATGAGCATCATCTCCCTCCTGGACGAAGAAAGCCGCTTCCCGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169994:ENST00000409816:11
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=0.000
Domain overlap (PFAM):
C1:
PF0006316=Myosin_head=FE(6.9=100)
A:
NA
C2:
PF0006316=Myosin_head=FE(10.3=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:
GGCACCTCTTCCTGTGGATTG
R:
GCGGGAAGCGGCTTTCTTC
Band lengths:
342-2017
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