HsaEX6018514 @ hg38
Exon Skipping
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218432046-218434705:+
Coord C1 exon
chr2:218432046-218432183
Coord A exon
chr2:218432793-218432951
Coord C2 exon
chr2:218434526-218434705
Length
159 bp
Sequences
Splice sites
3' ss Seq
TCCCTCCTGCTCATCCCCAGGGC
3' ss Score
10.03
5' ss Seq
CAGGTGTGG
5' ss Score
6.34
Exon sequences
Seq C1 exon
GTGTGGCGCATTGAGAACCTAGAGCTGGTACCTGTGGATTCCAAGTGGCTAGGCCACTTCTATGGGGGCGACTGCTACCTGCTGCTCTACACCTACCTCATCGGCGAGAAGCAGCATTACCTGCTCTACGTTTGGCAG
Seq A exon
GGCAGCCAGGCCAGCCAAGATGAAATTACAGCATCAGCTTATCAAGCCGTCATCCTGGACCAGAAGTACAATGGTGAACCAGTCCAGATCCGGGTCCCAATGGGCAAGGAGCCACCTCATCTTATGTCCATCTTCAAGGGACGCATGGTGGTCTACCAG
Seq C2 exon
GGAGGCACCTCCCGAACTAACAACTTGGAGACCGGGCCCTCCACACGGCTGTTCCAGGTCCAGGGAACTGGCGCCAACAACACCAAGGCCTTTGAGGTCCCAGCGCGGGCCAATTTCCTCAATTCCAATGATGTCTTTGTCCTCAAGACCCAGTCTTGCTGCTATCTATGGTGTGGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831-'22-18,'22-17,24-18=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.063 C2=0.172
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(48.2=87.0)
A:
PF0062617=Gelsolin=PD(49.4=77.4)
C2:
PF0062617=Gelsolin=PU(48.6=56.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTAGAGCTGGTACCTGTGG
R:
GAATTGAGGAAATTGGCCCGC
Band lengths:
247-406
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains