Special

HsaINT0059724 @ hg38

Intron Retention

Gene
ENSG00000141971 | MVB12A
Description
multivesicular body subunit 12A [Source:HGNC Symbol;Acc:HGNC:25153]
Coordinates
chr19:17420313-17420634:+
Coord C1 exon
chr19:17420313-17420411
Coord A exon
chr19:17420412-17420537
Coord C2 exon
chr19:17420538-17420634
Length
126 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
3' ss Seq
TGTCCCCCTTCCACCCCCAGAAC
3' ss Score
12.01
Exon sequences
Seq C1 exon
ATCTCCTGCACCGTCGAGGGGGCACCCGCCAGCTTTGGCAAGAGCTTCGCGCAGAAATCTGGCTACTTCCTGTGCCTTAGTTCTCTGGGCAGCCTAGAG
Seq A exon
GTAAGAGGTGCCCACCTTCGGAACCACCAGGGTCTGCCCACCTCCCCTGCCCATTCACGGTGCCCTATGCCAGGTGCGCTGTCCCCGCTGCTAGCCACCCTCGCCGTGTCCCCCTTCCACCCCCAG
Seq C2 exon
AACCCGCAGGAGAACGTGGTGGCCGATATCCAGATCGTGGTGGACAAGAGCCCCCTGCCGCTGGGCTTCTCCCCCGTCTGCGACCCCATGGATTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141971:ENST00000317040:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.071
Domain overlap (PFAM):

C1:
PF102404=DUF2464=FE(12.7=100)
A:
NA
C2:
PF102404=DUF2464=FE(12.7=100)


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:
CTCCTGCACCGTCGAGGG
R:
TGGAATCCATGGGGTCGCAG
Band lengths:
194-320
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