HsaEX0023903 @ hg38
Exon Skipping
Gene
ENSG00000141971 | MVB12A
Description
multivesicular body subunit 12A [Source:HGNC Symbol;Acc:HGNC:25153]
Coordinates
chr19:17405722-17424677:+
Coord C1 exon
chr19:17405722-17423799
Coord A exon
chr19:17424006-17424067
Coord C2 exon
chr19:17424621-17424677
Length
62 bp
Sequences
Splice sites
3' ss Seq
CCCTCGCACGTGTTTTTCAGCCA
3' ss Score
7.36
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
Exon sequences
Seq C1 exon
AGTGAGTCTAGATTGCGCCATTGCACTCCAGCCTGGGCAACATGAGCGAAACTCCGTCCCCAAAAAAAAAAAAAAAAAAAATTCCCCCAAAAGACAGAGGTCACCTGCATGCCCGGGTCCCCCGCCTTCTCCAGGGGCTATCCTCAACCCTGGCCCCACACCGGGCCAGCATCCCTCCCACCTTCCCTCCTGGTCCAGGGACATGGGCGGCTTTGCCATCTGGTGCAAGAAGGCCAAGGCCCCGAGGCCAGTGCCCAAGCCCCGAGGTCTCAGCCGGGACATGCAGGGCCTCTCTCTGGATGCAGCCAGCCAGCCAAGGTGAGTCCTCAGGCACCGGAGTGGGGGTGGCCGTTGTGGGAGGATGAGGCTTAACCTGAGTCATCCCACCTCCAGTAAGGGCGGCCTCCTGGAGCGGACAGCGTCAAGGCTGGGCTCTCGGGCATCCACTCTGCGGAGGAATGACTCCATCTACGAGGCCTCCAGCCTCTATGGCATCTCAG
Seq A exon
CCATGGATGGGGTTCCCTTCACACTCCACCCACGATTTGAGGGCAAGAGCTGCAGCCCCCTG
Seq C2 exon
GCCTTCTCTGCTTTTGGGGACCTGACCATCAAGTCTCTGGCGGACATTGAGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141971-'21-38,'21-36,22-38
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.192 A=0.102 C2=0.000
Domain overlap (PFAM):
C1:
PF102404=DUF2464=PD(28.9=94.6)
A:
PF102404=DUF2464=FE(16.4=100)
C2:
PF102404=DUF2464=FE(14.8=100)
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:
TCATCCCACCTCCAGTAAGGG
R:
TCAGGTCCCCAAAAGCAGAGA
Band lengths:
147-209
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