Special

HsaEX6018513 @ hg38

Exon Skipping

Gene
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218432793-218435434:+
Coord C1 exon
chr2:218432793-218432951
Coord A exon
chr2:218434526-218434705
Coord C2 exon
chr2:218435289-218435434
Length
180 bp
Sequences
Splice sites
3' ss Seq
TCTTCTGCCCTCACCTGCAGGGA
3' ss Score
12.08
5' ss Seq
AAGGTGTGT
5' ss Score
6.64
Exon sequences
Seq C1 exon
GGCAGCCAGGCCAGCCAAGATGAAATTACAGCATCAGCTTATCAAGCCGTCATCCTGGACCAGAAGTACAATGGTGAACCAGTCCAGATCCGGGTCCCAATGGGCAAGGAGCCACCTCATCTTATGTCCATCTTCAAGGGACGCATGGTGGTCTACCAG
Seq A exon
GGAGGCACCTCCCGAACTAACAACTTGGAGACCGGGCCCTCCACACGGCTGTTCCAGGTCCAGGGAACTGGCGCCAACAACACCAAGGCCTTTGAGGTCCCAGCGCGGGCCAATTTCCTCAATTCCAATGATGTCTTTGTCCTCAAGACCCAGTCTTGCTGCTATCTATGGTGTGGGAAG
Seq C2 exon
GGTTGTAGCGGGGACGAGCGGGAGATGGCCAAGATGGTTGCTGACACCATCTCCCGGACGGAGAAGCAAGTGGTGGTGGAAGGGCAGGAGCCAGCCAACTTCTGGATGGCCCTGGGTGGGAAGGCCCCCTATGCCAACACCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831-'24-19,'24-18,25-19
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.063 A=0.172 C2=0.068
Domain overlap (PFAM):

C1:
PF0062617=Gelsolin=PD(49.4=77.4)
A:
PF0062617=Gelsolin=PU(48.6=56.7)
C2:
PF0062617=Gelsolin=PD(48.6=69.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGGCCAGCCAAGATGAAAT
R:
CAGAAGTTGGCTGGCTCCTG
Band lengths:
258-438
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains