HsaINT0015965 @ hg38
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57809597-57809890:-
Coord C1 exon
chr12:57809812-57809890
Coord A exon
chr12:57809696-57809811
Coord C2 exon
chr12:57809597-57809695
Length
116 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGT
5' ss Score
9.11
3' ss Seq
CCTATCTCTGGCTGCTTTAGGAC
3' ss Score
8.91
Exon sequences
Seq C1 exon
TATCTCAGATTCAGCTGGGCAGCTGGCAGTCACAGAGGTAGCAACAAGGCCTCTGGTCCAGGACTTACTGAACCATGAT
Seq A exon
GTAAGTAGAGTTTGGGTGGACTTAGCTTGGGGTAGCCAGACATGCTTCAGAAGCAGACCCTGTGCAAAATCTTCCTTCTGGTCTTGAGCAACCATACCTATCTCTGGCTGCTTTAG
Seq C2 exon
GACTGCTACATCCTGGACCAAAGTGGAACCAAAATCTACGTGTGGAAAGGAAAAGGAGCCACAAAGGCTGAAAAACAGGCAGCCATGTCTAAAGCGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407:ENST00000257861:7
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(21.8=63.0)
A:
NA
C2:
PF0062617=Gelsolin=FE(41.0=100)
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:
TATCTCAGATTCAGCTGGGCAG
R:
CAGCGCTTTAGACATGGCTGC
Band lengths:
178-294
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