HsaEX0070339 @ hg38
Exon Skipping
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218431857-218432951:+
Coord C1 exon
chr2:218431857-218431957
Coord A exon
chr2:218432046-218432183
Coord C2 exon
chr2:218432793-218432951
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
CCAAAGTGGAACAGGTGAAGTTCGATGCCACATCCATGCATGTCAAGCCTCAGGTGGCTGCCCAGCAGAAGATGGTAGATGATGGGAGTGGGGAAGTGCAG
Seq A exon
GTGTGGCGCATTGAGAACCTAGAGCTGGTACCTGTGGATTCCAAGTGGCTAGGCCACTTCTATGGGGGCGACTGCTACCTGCTGCTCTACACCTACCTCATCGGCGAGAAGCAGCATTACCTGCTCTACGTTTGGCAG
Seq C2 exon
GGCAGCCAGGCCAGCCAAGATGAAATTACAGCATCAGCTTATCAAGCCGTCATCCTGGACCAGAAGTACAATGGTGAACCAGTCCAGATCCGGGTCCCAATGGGCAAGGAGCCACCTCATCTTATGTCCATCTTCAAGGGACGCATGGTGGTCTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831-'21-17,'21-14,22-17
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=0.000 C2=0.063
Domain overlap (PFAM):
C1:
NO
A:
PF0062617=Gelsolin=PU(48.2=87.0)
C2:
PF0062617=Gelsolin=PD(49.4=77.4)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACAGGTGAAGTTCGATGCCA
R:
CACCATGCGTCCCTTGAAGAT
Band lengths:
242-380
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