Special

HsaINT0059727 @ hg38

Intron Retention

Gene
ENSG00000141971 | MVB12A
Description
multivesicular body subunit 12A [Source:HGNC Symbol;Acc:HGNC:25153]
Coordinates
chr19:17423498-17423799:+
Coord C1 exon
chr19:17423498-17423617
Coord A exon
chr19:17423618-17423692
Coord C2 exon
chr19:17423693-17423799
Length
75 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
CTGAGTCATCCCACCTCCAGTAA
3' ss Score
5.36
Exon sequences
Seq C1 exon
GGACATGGGCGGCTTTGCCATCTGGTGCAAGAAGGCCAAGGCCCCGAGGCCAGTGCCCAAGCCCCGAGGTCTCAGCCGGGACATGCAGGGCCTCTCTCTGGATGCAGCCAGCCAGCCAAG
Seq A exon
GTGAGTCCTCAGGCACCGGAGTGGGGGTGGCCGTTGTGGGAGGATGAGGCTTAACCTGAGTCATCCCACCTCCAG
Seq C2 exon
TAAGGGCGGCCTCCTGGAGCGGACAGCGTCAAGGCTGGGCTCTCGGGCATCCACTCTGCGGAGGAATGACTCCATCTACGAGGCCTCCAGCCTCTATGGCATCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141971:ENST00000317040:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.397 A=NA C2=0.192
Domain overlap (PFAM):

C1:
PF102404=DUF2464=PU(31.1=97.4)
A:
NA
C2:
PF102404=DUF2464=PD(28.9=94.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion 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:
ATCTGGTGCAAGAAGGCCAAG
R:
TCATTCCTCCGCAGAGTGGAT
Band lengths:
170-245
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