HsaEX6018515 @ hg38
Exon Skipping
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218429849-218431957:+
Coord C1 exon
chr2:218429849-218429947
Coord A exon
chr2:218430725-218430878
Coord C2 exon
chr2:218431857-218431957
Length
154 bp
Sequences
Splice sites
3' ss Seq
GCCACCCCTTTCTCTTCCAGAAC
3' ss Score
11.38
5' ss Seq
TGGGTGAGG
5' ss Score
6.74
Exon sequences
Seq C1 exon
GACTGTTACATCCTGGACCAGGGGGGCCTGAAGATCTACGTGTGGAAAGGGAAGAAAGCCAATGAGCAGGAGAAGAAGGGAGCCATGAGCCATGCGCTG
Seq A exon
AACTTCATCAAAGCCAAGCAGTACCCACCAAGCACACAGGTGGAGGTGCAGAATGATGGGGCTGAGTCGGCCGTCTTTCAGCAGCTCTTCCAGAAGTGGACAGCGTCCAACCGGACCTCAGGCCTAGGCAAAACCCACACTGTGGGCTCCGTGG
Seq C2 exon
CCAAAGTGGAACAGGTGAAGTTCGATGCCACATCCATGCATGTCAAGCCTCAGGTGGCTGCCCAGCAGAAGATGGTAGATGATGGGAGTGGGGAAGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831-'14-13,'14-12,18-13=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=0.028 A=0.134 C2=0.029
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=FE(41.0=100)
A:
PF0062617=Gelsolin=PD(33.3=50.0)
C2:
NO
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:
GACTGTTACATCCTGGACCAG
R:
ACTTCCCCACTCCCATCATCT
Band lengths:
196-350
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains