HsaINT0059725 @ hg38
Intron Retention
Gene
ENSG00000141971 | MVB12A
Description
multivesicular body subunit 12A [Source:HGNC Symbol;Acc:HGNC:25153]
Coordinates
chr19:17420538-17422458:+
Coord C1 exon
chr19:17420538-17420634
Coord A exon
chr19:17420635-17422331
Coord C2 exon
chr19:17422332-17422458
Length
1697 bp
Sequences
Splice sites
5' ss Seq
CCAGTAAGG
5' ss Score
5.74
3' ss Seq
CCCCTACCCCCCACTCCCAGAGG
3' ss Score
7.36
Exon sequences
Seq C1 exon
AACCCGCAGGAGAACGTGGTGGCCGATATCCAGATCGTGGTGGACAAGAGCCCCCTGCCGCTGGGCTTCTCCCCCGTCTGCGACCCCATGGATTCCA
Seq A exon
GTAAGGGCTGCTTCGGAGGCGAGAGTTGTCCGGGTCCCTTGCAGGGAGGAGCGGGGGAGGAGGGACGACGGGCGCGCGGTATCTGAGCCTCGGCTGCCCCCTGGCACACGGGGTGATGACAGGGTTGGCTGAGGACTCAGAGCCCTGCCCTAGGGTGGACCGACATCCCCTGTCCTGATTCAAAATGTGTGATATGATTGGCACAGCCTGCATCCTCGAGTTAAGTGTTCAGTCCACGCCACCTGTTTCACTACTGTTGTGCTACTTGTGTCTTTTTACACCATAGCCAAGCAAAACCACTGCGCAGTTTTCTTTTTCATTTCCAGGCTTTGCACACGCCGCTTCCTCTGCCTGGGGCACTTTTTCTCTCCTTTTTGTAGCTCATTCTCCGTCCTCCGTCAGATGTCACCTTCACCCTTCCCTACCCCTCCTCTTCTGGGCCCACAACCCTAGTGCAGCCCTCCCAGCCCCACCTGAACTTTCCCACCCTTTCTTGTCATTTTTATTTGACTCAGGCTATATTCATTCATACTAGAGTTGGCAAACCTTTTTTTTTTTTTTTTTCTTCAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACCACAACCTCCGACTCCCGGGTTCAAGCGATTCTCCTGCCTCATCCTCCAGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTTTCGAACTCGTGACCTCAGGTGATCCACCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAAACTTTTTTTCTTTATTTTTTCTTAGAGTTGGCAAACTTTTATGTAAAGGGCCTTATAGTAAATATTTTAGGCTTTACAGGGCAGATGATGTGTTTTGCATATTCAATTTTTTTACAATTCCTTAAAAATGTAAAAATCACTCTTAACACATCAGCTGTATGAAACCAGGCCTTAGGCTTGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGCCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATTGTTTGAACCTGGGAGGCGGAGGTTGGAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAGAAAAGAAAAGAAAACAGACCTTGAGCCAGATTTGGCTCATGGGTGCTAGTTGTCCAACCTCTATAGGATTAGAGGGCTCATGGAAAGTAAGTTTTGAGGGCCACGATGGGCACCCAGCTCTGTCCGATTCCACAGCTAGCCACCCCATGAATGCAGCTTCATATCACCAAAGATCAGCCTACTCCAGCGGTTCCTAAAGGCTGCATGGAATCCCCTCCTTCATCTATACCATTCATGATTTAACCACTCCTCCCACCCCCATCCCCAATGTTGTCCATGTGGCTGCCTTAAACAGCACCCTGGCGAGCCTCATCCTAGAGTCATCTTTGGGCCTTCCCACCCCTGCCTGGCTTCCCTCTCTCACTCCCCTACCCCCCACTCCCAG
Seq C2 exon
AGGCCTCTGTGTCCAAGAAGAAACGCATGTGTGTGAAGCTGTTGCCCCTGGGAGCCACGGACACGGCTGTGTTTGATGTCCGGCTGAGTGGGAAGACCAAGACAGTGCCTGGATACCTTCGAATAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141971:ENST00000317040:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.071 A=NA C2=0.009
Domain overlap (PFAM):
C1:
PF102404=DUF2464=FE(12.7=100)
A:
NA
C2:
PF102404=DUF2464=FE(16.7=100)
Main Inclusion Isoform:
NA
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:
GAGAACGTGGTGGCCGATATC
R:
CCTATTCGAAGGTATCCAGGCAC
Band lengths:
215-1912
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