HsaEX0023907 @ hg38
Exon Skipping
Gene
ENSG00000196814 | MVB12B
Description
multivesicular body subunit 12B [Source:HGNC Symbol;Acc:HGNC:23368]
Coordinates
chr9:126381064-126386658:+
Coord C1 exon
chr9:126381064-126381171
Coord A exon
chr9:126385420-126385584
Coord C2 exon
chr9:126386562-126386658
Length
165 bp
Sequences
Splice sites
3' ss Seq
ACTCCCTGCTTGGCTTTCAGAGA
3' ss Score
9.07
5' ss Seq
CAAGTAAAC
5' ss Score
1.87
Exon sequences
Seq C1 exon
GTTGCACAGACAGCAGATGGTGTGGATGCTGACCTCTGGAAAGACGGCTTATTTAAATCCAAGGTTACCAGATACCTGTGTTTCACAAGATCATTTTCCAAAGAAAAT
Seq A exon
AGACGTGACACAGTGCAGGTGGAGGTGGGATCTTGGCTCCCATGTGCAGAGATGGAGGTAGCAGCCCTTCTTCTCTAAGCAAGATGGAACAACAGCCTGAGAAGTTGCTGTCCAGGGCAGAGTGATGGCTGACCAACTAGATGCTTGTCCAAGGATGCTGAACAA
Seq C2 exon
AGTCATCTGGGGAACGTGTTAGTAGATATGAAGCTCATTGACATCAAGGACACACTGCCTGTGGGCTTCATCCCAATTCAGGAGACGGTGGACACAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196814_MULTIEX1-1/7=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.035 A=0.120 C2=0.000
Domain overlap (PFAM):
C1:
PF102404=DUF2464=FE(13.9=100)
A:
PF102404=DUF2464=PD(13.4=34.6)
C2:
PF102404=DUF2464=FE(12.7=100)
Main Inclusion Isoform:
ENST00000361171fB2517
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTGCACAGACAGCAGATGGT
R:
TGTGTCCACCGTCTCCTGAAT
Band lengths:
204-369
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development