Special

HsaEX6018516 @ hg38

Exon Skipping

Gene
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218429597-218430878:+
Coord C1 exon
chr2:218429597-218429675
Coord A exon
chr2:218429849-218429947
Coord C2 exon
chr2:218430725-218430878
Length
99 bp
Sequences
Splice sites
3' ss Seq
CTTACCTCTCCCGACTCTAGGAC
3' ss Score
10.85
5' ss Seq
CTGGTAGTG
5' ss Score
0.67
Exon sequences
Seq C1 exon
TGTGTCTGACTCCGAGGGGAATCTGGTGGTGAGGGAAGTCGCCACACGGCCACTGACACAGGACCTGCTCAGTCACGAG
Seq A exon
GACTGTTACATCCTGGACCAGGGGGGCCTGAAGATCTACGTGTGGAAAGGGAAGAAAGCCAATGAGCAGGAGAAGAAGGGAGCCATGAGCCATGCGCTG
Seq C2 exon
AACTTCATCAAAGCCAAGCAGTACCCACCAAGCACACAGGTGGAGGTGCAGAATGATGGGGCTGAGTCGGCCGTCTTTCAGCAGCTCTTCCAGAAGTGGACAGCGTCCAACCGGACCTCAGGCCTAGGCAAAACCCACACTGTGGGCTCCGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831-'13-12,'13-11,14-12
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.028 C2=0.134
Domain overlap (PFAM):

C1:
PF0062617=Gelsolin=PU(21.8=63.0)
A:
PF0062617=Gelsolin=FE(41.0=100)
C2:
PF0062617=Gelsolin=PD(33.3=50.0)


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)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTCTGACTCCGAGGGGAATC
R:
CCACTTCTGGAAGAGCTGCTG
Band lengths:
176-275
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains