HsaEX6018512 @ hg19
Exon Skipping
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:12690]
Coordinates
chr2:219299249-219301349:+
Coord C1 exon
chr2:219299249-219299428
Coord A exon
chr2:219300012-219300157
Coord C2 exon
chr2:219301205-219301349
Length
146 bp
Sequences
Splice sites
3' ss Seq
CCAACTCTTTTTTTTCCTAGGGT
3' ss Score
8.72
5' ss Seq
GAGGTAACT
5' ss Score
8.77
Exon sequences
Seq C1 exon
GGAGGCACCTCCCGAACTAACAACTTGGAGACCGGGCCCTCCACACGGCTGTTCCAGGTCCAGGGAACTGGCGCCAACAACACCAAGGCCTTTGAGGTCCCAGCGCGGGCCAATTTCCTCAATTCCAATGATGTCTTTGTCCTCAAGACCCAGTCTTGCTGCTATCTATGGTGTGGGAAG
Seq A exon
GGTTGTAGCGGGGACGAGCGGGAGATGGCCAAGATGGTTGCTGACACCATCTCCCGGACGGAGAAGCAAGTGGTGGTGGAAGGGCAGGAGCCAGCCAACTTCTGGATGGCCCTGGGTGGGAAGGCCCCCTATGCCAACACCAAGAG
Seq C2 exon
ACTACAGGAAGAAAACCTGGTCATCACCCCCCGGCTCTTTGAGTGTTCCAACAAGACTGGGCGCTTCCTGGCCACAGAGATCCCTGACTTCAATCAGGATGACTTGGAAGAGGATGATGTGTTCCTACTAGATGTCTGGGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831-'18-17,'18-16,19-17=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.172 A=0.068 C2=0.000
Domain overlap (PFAM):
C1:
PF093475=DUF1989=FE(55.7=100),PF0062617=Gelsolin=PU(48.6=56.7)
A:
PF093475=DUF1989=PD(37.7=81.6),PF0062617=Gelsolin=PD(48.6=69.4)
C2:
PF0062617=Gelsolin=PU(34.2=55.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTAACAACTTGGAGACCGGGC
R:
AAGTCAGGGATCTCTGTGGCC
Band lengths:
254-400
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)