Special

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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
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