HsaEX0070339 @ hg19
Exon Skipping
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:12690]
Coordinates
chr2:219295448-219297674:+
Coord C1 exon
chr2:219295448-219295601
Coord A exon
chr2:219296769-219296906
Coord C2 exon
chr2:219297516-219297674
Length
138 bp
Sequences
Splice sites
3' ss Seq
TGGCCTGATACTGGCCCTAGGTG
3' ss Score
6.19
5' ss Seq
CAGGTCAGG
5' ss Score
7.2
Exon sequences
Seq C1 exon
AACTTCATCAAAGCCAAGCAGTACCCACCAAGCACACAGGTGGAGGTGCAGAATGATGGGGCTGAGTCGGCCGTCTTTCAGCAGCTCTTCCAGAAGTGGACAGCGTCCAACCGGACCTCAGGCCTAGGCAAAACCCACACTGTGGGCTCCGTGG
Seq A exon
GTGTGGCGCATTGAGAACCTAGAGCTGGTACCTGTGGATTCCAAGTGGCTAGGCCACTTCTATGGGGGCGACTGCTACCTGCTGCTCTACACCTACCTCATCGGCGAGAAGCAGCATTACCTGCTCTACGTTTGGCAG
Seq C2 exon
GGCAGCCAGGCCAGCCAAGATGAAATTACAGCATCAGCTTATCAAGCCGTCATCCTGGACCAGAAGTACAATGGTGAACCAGTCCAGATCCGGGTCCCAATGGGCAAGGAGCCACCTCATCTTATGTCCATCTTCAAGGGACGCATGGTGGTCTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831_MULTIEX1-2/2=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.180 A=0.000 C2=0.063
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(33.3=50.0)
A:
PF0062617=Gelsolin=PU(48.2=87.0)
C2:
PF0062617=Gelsolin=PD(95.3=77.4),PF093475=DUF1989=PU(3.8=7.5)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGAATGATGGGGCTGAGTC
R:
ACCATGCGTCCCTTGAAGATG
Band lengths:
256-394
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)