HsaINT0058833 @ hg38
Intron Retention
Gene
ENSG00000130713 | EXOSC2
Description
exosome component 2 [Source:HGNC Symbol;Acc:HGNC:17097]
Coordinates
chr9:130700867-130702310:+
Coord C1 exon
chr9:130700867-130700935
Coord A exon
chr9:130700936-130702133
Coord C2 exon
chr9:130702134-130702310
Length
1198 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
3' ss Seq
TTCGTGATATATTTCTTTAGCTA
3' ss Score
5.57
Exon sequences
Seq C1 exon
GCTGAGGTCCAGGCAGTGTTCTCTGACGGAGCTGTCTCTTTGCACACGAGGAGCCTGAAATATGGAAAA
Seq A exon
GTAAGTCGGGCTCTTGATGTTCCTGTTTGCTGACTGAGACTACAAGGCTATTTTTGAATCCCCATAGCTCTCTGGAATTCTGGCCTAAAGAACCCCAGTAGCTAAGCATTAATAGAGGCTGGCATCCCACAAACTGATCGTGTTCCTTAAACGTAACATCAGGACGGTCAGGGTTCACAGGGTCATGGGTCAGTAGCCTTGTAAAGAACAAGTTTTATCCTTTTTCTCCAAGGAGACTGACTTTCACCAGAAGAGCCCCTCCAACTGTGGGCTGGGAGGTGCAGCTGTCTCTCTTCCTCCAGGGGGCGCTGCAGCTCAGCACTGGGGCTGAGGCTGTCCTGGGAACAAAGGCAGGCTGGGTCTGGTTAAACAGCCCTTAGACAAACGTCCAATCAGTCCAGTGGATGTTATTGCTGGCAAAGCTTGCTCTGTCATCTGAGCCTCTAAATGGAATTTCACTGCTTTTCTTGTACGAGGTTGCATTATTGAAGCTATTTACTATTTTAAGGAGAGCATACTTCCTAAAACAAATTAGGATTTACTAGTCTCTTAGCTTTATCTGGGTGAACGTTTTTATTTTCTGAGTGGAACAAAAACCTCTTCCCTTAATGGAGTGGCTGCAGACAGCCACGTTGATGTACATGGAGTAGGCAGAGGACTGCTGCAGTATGCTGACTTTCACAACCCTGGGTCCTGCGGACTCTTCCTTGGCAGGACGTGGACTTGAGCTGTCCTGCCAGGACCAGACATGGATTTGCACCCAGCTCCACCCATCTCCTTACCTACCCAGAGGCACACATCTCACAGGCAAGATGAGTGTTTGGGGTTCAGGTATGAGCTAGGGTCATGGAACAACGCAGTGCTCCTGGGCCAGCAGGAGGCTCCAGCTCACTTCCTCATTGGCTTCAGCTTCTCTAATGTCTGGCACATGAGTTCTGGCTTAGAGTGCAAGGAAGACTGCAAAGGGAAATGACAGAGAAGAGTATTGAAGGTCACCTTCTGCTGGGATGTATGAATAGCCTCTGAGTCCCAAAGCGTTCTCTGCAAAAATGTGTACTATGTGTATGCATGTAGGCGACAGCAATTATAAACAGGAAGGACACCAATTTGAATATACTTAGGATGTATATTCTGTAGTCTCCTTTTCATTCATCCCGCCAATCTTGCAGTGACCTAGCTTCGTGATATATTTCTTTAG
Seq C2 exon
CTAGGTCAGGGGGTTTTGGTCCAGGTTTCCCCCTCCCTGGTGAAACGGCAGAAGACCCACTTTCATGATTTGCCATGTGGTGCCTCAGTGATTCTCGGTAACAACGGCTTCATCTGGATTTACCCAACACCTGAGCACAAAGAAGAGGAAGCAGGGGGCTTCATTGCAAACCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130713:ENST00000372358:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.017
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGAGGTCCAGGCAGTGTT
R:
CTCCAGGTTTGCAATGAAGCC
Band lengths:
246-1444
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development