HsaINT0015951 @ hg38
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57807590-57808294:-
Coord C1 exon
chr12:57808194-57808294
Coord A exon
chr12:57807728-57808193
Coord C2 exon
chr12:57807590-57807727
Length
466 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGC
5' ss Score
9.85
3' ss Seq
GTGTCTCCTTCTATGCCCAGGTC
3' ss Score
8.8
Exon sequences
Seq C1 exon
CTAAAGTTTTCCAGGATAAATTTGATGTGACTCTGCTACACACCAAGCCAGAGGTAGCTGCCCAGGAAAGAATGGTCGATGATGGCAACGGAAAAGTTGAG
Seq A exon
GTAAGCCCAATGATTCAAATGTCAGGGCAGACAGCACTGGCCTTCATGGCTGTCCTGCTGGGGGCAGGGGTGCAGGTGATTCTGTGTCTGCTTTGCTTTCCCTTTCCCCTCCGGCACCTCAGGAGTCTTCTTTAAGAGTCTTGTGAGTCTGTAGAGTTTTCAGGGTAGTGAAAGGCACATCCTCAAATGTGCTATCAATATCTCACCTGGAAGATATATTCAAATCATTGCTCAGCCTTGCAAAGACCGAGCCATGATGGGATGCTCCTGAACAGGATGGCCCAGTTCATCTCACGATTCAAATCATGCAAATGTGATGAGTCCTCAGCACTGGGAGAGAACCAGAGGGAGAAAGGGAACATGGAGTAAACGTCAGCACCTTTCCCACCTGGATTCTCTCTTTAGTGTGGCCTAGCCCCTCTCAGCACCCCCATCTCTGGAAAACGGTGTCTCCTTCTATGCCCAG
Seq C2 exon
GTCTGGAGAATTGAGAACCTGGAGCTGGTCCCTGTGGAGTATCAATGGTATGGCTTCTTTTATGGGGGAGACTGTTATCTGGTCCTCTACACATACGAGGTAAATGGGAAGCCACATCACATCTTGTACATCTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407:ENST00000257861:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0062617=Gelsolin=PU(48.2=87.0)
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:
TCCAGGATAAATTTGATGTGACTCTG
R:
CTGCCAGATGTACAAGATGTGA
Band lengths:
230-696
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