HsaEX0023910 @ hg38
Exon Skipping
Gene
ENSG00000196814 | MVB12B
Description
multivesicular body subunit 12B [Source:HGNC Symbol;Acc:HGNC:23368]
Coordinates
chr9:126386562-126395697:+
Coord C1 exon
chr9:126386562-126386658
Coord A exon
chr9:126392066-126392195
Coord C2 exon
chr9:126395575-126395697
Length
130 bp
Sequences
Splice sites
3' ss Seq
TCTATTGTCCTTTCCTTCAGAGG
3' ss Score
9.69
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
AGTCATCTGGGGAACGTGTTAGTAGATATGAAGCTCATTGACATCAAGGACACACTGCCTGTGGGCTTCATCCCAATTCAGGAGACGGTGGACACAC
Seq A exon
AGGAAGTGGCTTTTAGGAAGAAGAGGCTGTGCATTAAATTTATTCCACGGGATTCAACGGAAGCTGCGATTTGTGACATTCGGATCATGGGCCGGACCAAGCAGGCCCCGCCTCAGTACACGTTTATTGG
Seq C2 exon
GGAACTGAACAGCATGGGGATCTGGTATCGAATGGGCAGAGTACCAAGAAATCATGACTCATCTCAACCCACAACGCCTTCCCAGTCATCAGCTGCCTCCACCCCAGCCCCCAACCTTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196814_MULTIEX1-3/7=2-4
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=0.000 C2=0.622
Domain overlap (PFAM):
C1:
PF102404=DUF2464=FE(12.7=100)
A:
PF102404=DUF2464=FE(17.1=100)
C2:
PF102404=DUF2464=PD(23.1=95.2)
Main Skipping Isoform:
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:
GTCATCTGGGGAACGTGTTAGT
R:
CTGGGAAGGTTGGGGGCT
Band lengths:
219-349
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