HsaEX6093827 @ hg38
Exon Skipping
Gene
ENSG00000141971 | MVB12A
Description
multivesicular body subunit 12A [Source:HGNC Symbol;Acc:HGNC:25153]
Coordinates
chr19:17420313-17422458:+
Coord C1 exon
chr19:17420313-17420411
Coord A exon
chr19:17420538-17420634
Coord C2 exon
chr19:17422332-17422458
Length
97 bp
Sequences
Splice sites
3' ss Seq
TGTCCCCCTTCCACCCCCAGAAC
3' ss Score
12.01
5' ss Seq
CCAGTAAGG
5' ss Score
5.74
Exon sequences
Seq C1 exon
ATCTCCTGCACCGTCGAGGGGGCACCCGCCAGCTTTGGCAAGAGCTTCGCGCAGAAATCTGGCTACTTCCTGTGCCTTAGTTCTCTGGGCAGCCTAGAG
Seq A exon
AACCCGCAGGAGAACGTGGTGGCCGATATCCAGATCGTGGTGGACAAGAGCCCCCTGCCGCTGGGCTTCTCCCCCGTCTGCGACCCCATGGATTCCA
Seq C2 exon
AGGCCTCTGTGTCCAAGAAGAAACGCATGTGTGTGAAGCTGTTGCCCCTGGGAGCCACGGACACGGCTGTGTTTGATGTCCGGCTGAGTGGGAAGACCAAGACAGTGCCTGGATACCTTCGAATAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141971-'8-31,'8-25,9-31
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.071 C2=0.009
Domain overlap (PFAM):
C1:
PF102404=DUF2464=FE(12.7=100)
A:
PF102404=DUF2464=FE(12.7=100)
C2:
PF102404=DUF2464=FE(16.7=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGAGCTTCGCGCAGAAATCT
R:
GCACTGTCTTGGTCTTCCCAC
Band lengths:
168-265
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains