HsaEX0023904 @ hg38
Exon Skipping
Gene
ENSG00000141971 | MVB12A
Description
multivesicular body subunit 12A [Source:HGNC Symbol;Acc:HGNC:25153]
Coordinates
chr19:17424006-17424989:+
Coord C1 exon
chr19:17424006-17424067
Coord A exon
chr19:17424621-17424677
Coord C2 exon
chr19:17424931-17424989
Length
57 bp
Sequences
Splice sites
3' ss Seq
GACCCACCTCTGCCCGCCAGGCC
3' ss Score
6.96
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
Exon sequences
Seq C1 exon
CCATGGATGGGGTTCCCTTCACACTCCACCCACGATTTGAGGGCAAGAGCTGCAGCCCCCTG
Seq A exon
GCCTTCTCTGCTTTTGGGGACCTGACCATCAAGTCTCTGGCGGACATTGAGGAGGAG
Seq C2 exon
TATAACTACGGCTTCGTGGTGGAGAAGACCGCGGCTGCCCGCCTGCCCCCCAGCGTCTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141971-'22-39,'22-38,23-39
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.102 A=0.000 C2=0.076
Domain overlap (PFAM):
C1:
PF102404=DUF2464=FE(16.4=100)
A:
PF102404=DUF2464=FE(14.8=100)
C2:
PF102404=DUF2464=PD(12.8=68.2)
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:
CATGGATGGGGTTCCCTTCAC
R:
CGGTCTTCTCCACCACGAAG
Band lengths:
92-149
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