HsaEX0023902 @ hg38
Exon Skipping
Gene
ENSG00000141971 | MVB12A
Description
multivesicular body subunit 12A [Source:HGNC Symbol;Acc:HGNC:25153]
Coordinates
chr19:17420538-17423617:+
Coord C1 exon
chr19:17420538-17420634
Coord A exon
chr19:17422332-17422458
Coord C2 exon
chr19:17423498-17423617
Length
127 bp
Sequences
Splice sites
3' ss Seq
CCCCTACCCCCCACTCCCAGAGG
3' ss Score
7.36
5' ss Seq
AGGGTAGGG
5' ss Score
5.76
Exon sequences
Seq C1 exon
AACCCGCAGGAGAACGTGGTGGCCGATATCCAGATCGTGGTGGACAAGAGCCCCCTGCCGCTGGGCTTCTCCCCCGTCTGCGACCCCATGGATTCCA
Seq A exon
AGGCCTCTGTGTCCAAGAAGAAACGCATGTGTGTGAAGCTGTTGCCCCTGGGAGCCACGGACACGGCTGTGTTTGATGTCCGGCTGAGTGGGAAGACCAAGACAGTGCCTGGATACCTTCGAATAGG
Seq C2 exon
GGACATGGGCGGCTTTGCCATCTGGTGCAAGAAGGCCAAGGCCCCGAGGCCAGTGCCCAAGCCCCGAGGTCTCAGCCGGGACATGCAGGGCCTCTCTCTGGATGCAGCCAGCCAGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141971-'9-33,'9-31,18-33
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.071 A=0.009 C2=0.397
Domain overlap (PFAM):
C1:
PF102404=DUF2464=FE(12.7=100)
A:
PF102404=DUF2464=FE(16.7=100)
C2:
PF102404=DUF2464=PU(31.1=97.4)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGGAGAACGTGGTGGC
R:
TTGGCTGGCTGGCTGCAT
Band lengths:
211-338
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