HsaEX0023905 @ hg38
Exon Skipping
Gene
ENSG00000196814 | MVB12B
Description
multivesicular body subunit 12B [Source:HGNC Symbol;Acc:HGNC:23368]
Coordinates
chr9:126421854-126484032:+
Coord C1 exon
chr9:126421854-126421948
Coord A exon
chr9:126481369-126481424
Coord C2 exon
chr9:126483973-126484032
Length
56 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTCTTCTTTTGCAGCAA
3' ss Score
12.12
5' ss Seq
AGTGTAAGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
GCACATCTCCCTAACACTTCCTGCCACCTTCCGAGGCAGGAACAGCACCCGGACGGACTACGAGTACCAGCACTCCAATTTGTATGCCATATCAG
Seq A exon
CAATGGATGGTGTGCCTTTTATGATTTCAGAGAAGTTTTCTTGTGTTCCAGAAAGT
Seq C2 exon
ATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196814-'23-46,'23-44,27-46
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.141 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF102404=DUF2464=FE(12.7=100)
A:
PF102404=DUF2464=FE(19.6=100)
C2:
PF102404=DUF2464=FE(20.7=100)
Main Skipping Isoform:
ENST00000361171fB20442
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:
ATCTCCCTAACACTTCCTGCCA
R:
AGAGATTTGATGGTGATTCCCAGG
Band lengths:
132-188
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