Special

HsaINT0059726 @ hg38

Intron Retention

Gene
ENSG00000141971 | MVB12A
Description
multivesicular body subunit 12A [Source:HGNC Symbol;Acc:HGNC:25153]
Coordinates
chr19:17422332-17423617:+
Coord C1 exon
chr19:17422332-17422458
Coord A exon
chr19:17422459-17423497
Coord C2 exon
chr19:17423498-17423617
Length
1039 bp
Sequences
Splice sites
5' ss Seq
AGGGTAGGG
5' ss Score
5.76
3' ss Seq
CACCTTCCCTCCTGGTCCAGGGA
3' ss Score
8.6
Exon sequences
Seq C1 exon
AGGCCTCTGTGTCCAAGAAGAAACGCATGTGTGTGAAGCTGTTGCCCCTGGGAGCCACGGACACGGCTGTGTTTGATGTCCGGCTGAGTGGGAAGACCAAGACAGTGCCTGGATACCTTCGAATAGG
Seq A exon
GTAGGGCCACCCCCCAGTGTCTAGCCACCTTCCCTGCCCTCCCAACTCATGATCTCACCAATCTGACCCTCAAGGACACCCCTGAGGTCTCCTGTTCCTTCTTCTACCTTCTGAGCCTCAGATTCTGCATGTTAAAACCGGGACATATATATCATCTTGTAGGACTGTCATTAGGAGTCAGTGACTTGGTGTCTAAAGTAGACATAACAGGACTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCCGATCACAAGGTCAGGAGATCGAGACCATCCTGACTAACATGTTGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCCGGGTATGGTGGCACACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATCACTTGAACCTGGAAGGCGGAGGTTGCAGTGAGTTGAGATCGCGCCACTGCACTCCAGTCTGGGGCGACAGAGCGAGACTCCGTCTCAAAAATAAAATAAAATAAATAAAAATAAAGTAGACAGAACGGTGATTTGAACCCAGCAGTATTAGTTTGGTGTGGTGCTTCGGGTGTGGGTCAAGATGCTGAAACAAAAATCCCCCAAAAGACTGGGCACGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGAAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCCGTTTCTACTTAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTTGCCTGTAATCCCAGCTAATCCAGAGGCTGAGGCAGGAGAATCGTTTGAACCTGGGAGGTGGAGATTGCAGTGAGTCTAGATTGCGCCATTGCACTCCAGCCTGGGCAACATGAGCGAAACTCCGTCCCCAAAAAAAAAAAAAAAAAAAATTCCCCCAAAAGACAGAGGTCACCTGCATGCCCGGGTCCCCCGCCTTCTCCAGGGGCTATCCTCAACCCTGGCCCCACACCGGGCCAGCATCCCTCCCACCTTCCCTCCTGGTCCAG
Seq C2 exon
GGACATGGGCGGCTTTGCCATCTGGTGCAAGAAGGCCAAGGCCCCGAGGCCAGTGCCCAAGCCCCGAGGTCTCAGCCGGGACATGCAGGGCCTCTCTCTGGATGCAGCCAGCCAGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141971:ENST00000317040:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.009 A=NA C2=0.397
Domain overlap (PFAM):

C1:
PF102404=DUF2464=FE(16.7=100)
A:
NA
C2:
PF102404=DUF2464=PU(31.1=97.4)


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:
AGGCCTCTGTGTCCAAGAAGA
R:
TTGGCTGGCTGGCTGCAT
Band lengths:
246-1285
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