Special

HsaINT0059729 @ hg38

Intron Retention

Gene
ENSG00000141971 | MVB12A
Description
multivesicular body subunit 12A [Source:HGNC Symbol;Acc:HGNC:25153]
Coordinates
chr19:17424006-17424677:+
Coord C1 exon
chr19:17424006-17424067
Coord A exon
chr19:17424068-17424620
Coord C2 exon
chr19:17424621-17424677
Length
553 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
3' ss Seq
GACCCACCTCTGCCCGCCAGGCC
3' ss Score
6.96
Exon sequences
Seq C1 exon
CCATGGATGGGGTTCCCTTCACACTCCACCCACGATTTGAGGGCAAGAGCTGCAGCCCCCTG
Seq A exon
GTGAGTCGGGGTCTCAGGGAGCCTGGGTCTGCGCCTGCCATCACCATTCTGGGTGCCAGGACATCCCTGTATCCAGTGCCCCAGCACAGAGGGCCACATCCTGGGTTGGGGCTGGAGTGTGTCACCTCCAGGTGGCAGCTGGAAGGTCTTCAGTCTTAGAATGGGGAGGGATCCATCCAGAGAAAGCAGCTGGACACCAGTAGCTAGAGGCTGTGACAAGAAGGGGGAGGGATGCTGGGCATGGTGGCTCACGACTGTGATCCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACTTGAGGCCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTATTGAAAATACAAAAATTAGCCAGGCGCGGCTTTAGAGACTTTGTCTCTAAAAACAAAACAAAACAAACAAGAAAAATAAGGGGGAGGGATGTCCGAGGGAATATTCGGGGAGTGTTGGGGGGAGGGCAGGACCCCTTGAAGACGAAGGAAAGGGGGTTTCAGGTTGAGATCGGGCCCAAGGCTGACCCACCTCTGCCCGCCAG
Seq C2 exon
GCCTTCTCTGCTTTTGGGGACCTGACCATCAAGTCTCTGGCGGACATTGAGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141971:ENST00000317040:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.102 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF102404=DUF2464=FE(16.4=100)
A:
NA
C2:
PF102404=DUF2464=FE(14.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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