HsaEX6063056 @ hg38
Exon Skipping
Gene
ENSG00000196814 | MVB12B
Description
multivesicular body subunit 12B [Source:HGNC Symbol;Acc:HGNC:23368]
Coordinates
chr9:126481369-126507041:+
Coord C1 exon
chr9:126481369-126481424
Coord A exon
chr9:126483973-126484032
Coord C2 exon
chr9:126503177-126507041
Length
60 bp
Sequences
Splice sites
3' ss Seq
AACTTCATCTGTGTTTTCAGATG
3' ss Score
8.88
5' ss Seq
GAGGTAAGC
5' ss Score
9.85
Exon sequences
Seq C1 exon
CAATGGATGGTGTGCCTTTTATGATTTCAGAGAAGTTTTCTTGTGTTCCAGAAAGT
Seq A exon
ATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAG
Seq C2 exon
TACGAGTACAGCTTCCGCACAGAGCAGAGCGCAGCCGCCAGGCTCCCGCCCAGCCCCACCAGGTGTCAGCAGATCCCGCAGTCCTGAGGAGCCAGCGGCCACCTGCGGGGAGACCACCGCCGCCCAGACTACTGACGGCAGGGGCTGCTGCCCCCGCCTCCTCCTGCCGCCTCCGCCAGCCCTCCCTCCCACACTGCCCCAGCAGGGCTGGCCCGGAGACTGGGCAGCTAAGTGGGCGCATCCTGTCTTCAGCTGGCCTCACTGACACCCCGGCCTCCCTGGGGACATTGTTCATAACCATGACTAATCTGTGTGTGCTGTAGTGACCAGCGGCTCCTAACGTGTCTGTGTGATGACCAGTTGTCCTCCAAAAACCTCACTCACCACGGAGTCACCCTGAGGGCCCCGGGCAGTTGCCCTGGCCGCCCAGTGACGCCCACCGGCTCCCTCCGCTCCCTCCTGTCACCTACCAGGGCAGACCCCACTAAGCCGTTGAGTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196814-'27-54,'27-46,28-54
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.625
Domain overlap (PFAM):
C1:
PF102404=DUF2464=FE(19.6=100)
A:
PF102404=DUF2464=FE(20.7=100)
C2:
PF102404=DUF2464=PD(2.8=24.1)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGATGGTGTGCCTTTTATGA
R:
CTCCTCAGGACTGCGGGATC
Band lengths:
144-204
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains