HsaEX6018517 @ hg38
Exon Skipping
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218429285-218429947:+
Coord C1 exon
chr2:218429285-218429487
Coord A exon
chr2:218429597-218429675
Coord C2 exon
chr2:218429849-218429947
Length
79 bp
Sequences
Splice sites
3' ss Seq
GCCTTGCTTCTGTCCTGCAGTGT
3' ss Score
9.26
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
GGCATGACTCTGGCCAAGGAGATCCGAGACCAGGAGCGGGGAGGGCGCACCTATGTAGGCGTGGTGGACGGAGAGAATGAATTGGCATCCCCGAAGCTGATGGAGGTGATGAACCACGTGCTGGGCAAGCGCAGGGAGCTGAAGGCGGCCGTGCCCGACACGGTGGTGGAGCCGGCACTCAAGGCTGCACTCAAACTGTACCA
Seq A exon
TGTGTCTGACTCCGAGGGGAATCTGGTGGTGAGGGAAGTCGCCACACGGCCACTGACACAGGACCTGCTCAGTCACGAG
Seq C2 exon
GACTGTTACATCCTGGACCAGGGGGGCCTGAAGATCTACGTGTGGAAAGGGAAGAAAGCCAATGAGCAGGAGAAGAAGGGAGCCATGAGCCATGCGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831-'12-11,'12-10,13-11=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=0.044 A=0.000 C2=0.028
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(40.0=44.1)
A:
PF0062617=Gelsolin=PU(21.8=63.0)
C2:
PF0062617=Gelsolin=FE(41.0=100)
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:
ATGAATTGGCATCCCCGAAGC
R:
CACACGTAGATCTTCAGGCCC
Band lengths:
171-250
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains