Special

HsaINT0059723 @ hg38

Intron Retention

Gene
ENSG00000141971 | MVB12A
Description
multivesicular body subunit 12A [Source:HGNC Symbol;Acc:HGNC:25153]
Coordinates
chr19:17419081-17420411:+
Coord C1 exon
chr19:17419081-17420225
Coord A exon
chr19:17420226-17420312
Coord C2 exon
chr19:17420313-17420411
Length
87 bp
Sequences
Splice sites
5' ss Seq
GCGGTGAGC
5' ss Score
8.02
3' ss Seq
GACCCGCGTCCTCCCGGTAGATC
3' ss Score
9.41
Exon sequences
Seq C1 exon
AGAAAATCTCCATTTTGTGTAGATGGGTTGTATGAAGACAACCCAGGAATTGAGGCTCATGAATTGAGCCTGCGTGTCTGGAGTCCCACCCTGCACATGCTAGCATTCCTCTCCCTTCCTGTACCCAGGGGAAGAAACAATAAAACGTTATGCTTTTTACTGTTGAGGGAGAAGGGGCAGTTAGAGTGAGAGCCTCTCCTTCTCCATTCCTGGCCAGTGAATAAAACCTGATTGCCTTTTCCGATTGGATGTTCCTTCTTTGCCACCTACACAAAGTGGGGAGGTAACTCGGTTTGCTGGTGGCATCCTCAGTAGCTGGGACTACAGGCAATAAATTCTTTTATACGTCGCTTTTTAAACGTATTGTGCCTGTGAACAAATCTTCAAGTTATACCCAAGATTTCAAAGCTCATGATGGTCCATAGTACTCGCTCTTTAAATCAATAGCTGCGTATCCCACAGATGATTTCCTTTGGGATGATTTCCCAGAACTGGAATTGCAGATTCTTCACAATGCATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGAGGGTCTCGATCTCTTGACCTCATGATCCGCCCGCCTCCGCCTCCCAAAGTGCCGGGATTACAGGCGTCAGCCACTGCGCGCGGCCACAAAGCTCCCAACTTTTCCGTTAAGCACCGAGCTTTTTTCTAGACTAGCAGCTGAGGCCGGAAGGAATTCTGGGGAACGTAGTGCAGACTTGCAGAGAACGAGTCTCTTGGTCCTGTGCCGTAGCATTTCCGGCGGAAGTTGCTGGGCGCGGAAAGCCGGCAAGACCTTTTTTTCCGCCATCATCGCTCACGCGCGCAACCCTGGCGACGCGTGGTGGCGAGGCTCCGCCTCCCCACGCCATTGGCCAGCAGCTCCTCGGGCACGCGTATACTGCGCTTCCGGGCAATCTCCGCCCCCCCCCCCCGCATGGCCTTCTGGGAGTTGTAGTTCGGTCGCGAGCGCTGCCGTCGGGAGGCGCTCCGAGGTTCGAGGCTGTGCCCCGCGACCCCGCCTTCGGCGCTCGGCTCGCAGGATGGATCCCGTACCCGGGACAGACTCGGCGCCGCTGGCTGGCCTGGCCTGGTCGTCGGCCTCTGCACCCCCGCCGCGGGGGTTCAGCGCG
Seq A exon
GTGAGCGGCGTCGAGGGGCGGGGGTCGAATGGGGGAGGCAGTCGCTGTGGGGTGGGAGTCCGGCGCTGACCCGCGTCCTCCCGGTAG
Seq C2 exon
ATCTCCTGCACCGTCGAGGGGGCACCCGCCAGCTTTGGCAAGAGCTTCGCGCAGAAATCTGGCTACTTCCTGTGCCTTAGTTCTCTGGGCAGCCTAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141971:ENST00000317040:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=0.272 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF102404=DUF2464=PU(7.9=66.7)
A:
NA
C2:
PF102404=DUF2464=FE(12.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
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:
CGTACCCGGGACAGACTCG
R:
CTCTAGGCTGCCCAGAGAACT
Band lengths:
181-268
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