HsaINT0015952 @ hg38
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57807331-57807727:-
Coord C1 exon
chr12:57807590-57807727
Coord A exon
chr12:57807490-57807589
Coord C2 exon
chr12:57807331-57807489
Length
100 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGC
5' ss Score
9.88
3' ss Seq
ATGGCCTCTCACCATTGCAGGGC
3' ss Score
9.31
Exon sequences
Seq C1 exon
GTCTGGAGAATTGAGAACCTGGAGCTGGTCCCTGTGGAGTATCAATGGTATGGCTTCTTTTATGGGGGAGACTGTTATCTGGTCCTCTACACATACGAGGTAAATGGGAAGCCACATCACATCTTGTACATCTGGCAG
Seq A exon
GTAGGCCTGGCACAGGCTTCAGCTTTGGATCCTGATGTGTCCTCTGGCCACTGGGCTGGGGCGGGGAGCATGGGTCCTTCATGGCCTCTCACCATTGCAG
Seq C2 exon
GGCCGCCACGCCTCACAGGATGAGCTGGCAGCCTCAGCATACCAGGCAGTGGAGGTGGATCGGCAGTTTGATGGGGCTGCTGTGCAGGTTCGAGTCAGGATGGGAACGGAGCCACGCCACTTCATGGCCATCTTCAAAGGGAAGCTAGTTATCTTTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407:ENST00000257861:11
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:
PF0062617=Gelsolin=PU(48.2=87.0)
A:
NA
C2:
PF0062617=Gelsolin=PD(49.4=77.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTGGTCCCTGTGGAGTATC
R:
TCCCTTTGAAGATGGCCATGA
Band lengths:
258-358
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