HsaINT0057797 @ hg38
Intron Retention
Gene
ENSG00000196678 | ERI2
Description
ERI1 exoribonuclease family member 2 [Source:HGNC Symbol;Acc:HGNC:30541]
Coordinates
chr16:20799957-20800402:-
Coord C1 exon
chr16:20800302-20800402
Coord A exon
chr16:20800039-20800301
Coord C2 exon
chr16:20799957-20800038
Length
263 bp
Sequences
Splice sites
5' ss Seq
AAGGTAATG
5' ss Score
8.99
3' ss Seq
TATCTTTTTTTATTGGTTAGCTT
3' ss Score
4.83
Exon sequences
Seq C1 exon
ACTGGGACTTGGGGGTTTGCCTGGAGTATGAGTGTAAAAGAAAGCAGCTGTTAAAACCTGTGTTTTTAAATTCTTGGATTGATCTCAGAGCAACTTACAAG
Seq A exon
GTAATGGTAAAAAATGGGGGCATGTTTACTTTTTTCTATGGAAAAATGATTAACTTTTATCCTACACATGGGCATGGGTTTCTGCAAAGAAGATACTTTCTTTTGTACTGGTCACATAAATGCATTTCTTAAAGTATTTAAAAACAACACACAAAAAATAAGCACATTCTAAATCTAATAGAACTAAAAATTATGAAAAGTGTTTAATACATAGTCTTTAAAATAGTAATCTTCTTTTAAATATATCTTTTTTTATTGGTTAG
Seq C2 exon
CTTTTCTATAGGAGAAAACCAAAAGGACTAAGTGGTGCCTTGCAGGAAGTAGGAATAGAATTCTCAGGACGAGAACATTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196678:ENST00000300005:6
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=0.000
Domain overlap (PFAM):
C1:
PF0092919=RNase_T=FE(17.5=100)
A:
NA
C2:
PF0092919=RNase_T=FE(14.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGGACTTGGGGGTTTGC
R:
TCGTCCTGAGAATTCTATTCCTACT
Band lengths:
172-435
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