Special

HsaEX6018510 @ hg38

Exon Skipping

Gene
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218436482-218438726:+
Coord C1 exon
chr2:218436482-218436626
Coord A exon
chr2:218437124-218437312
Coord C2 exon
chr2:218438658-218438726
Length
189 bp
Sequences
Splice sites
3' ss Seq
TCCCCTGGGTTTCTCAATAGGTC
3' ss Score
10.57
5' ss Seq
AGTGTGAGT
5' ss Score
6.96
Exon sequences
Seq C1 exon
ACTACAGGAAGAAAACCTGGTCATCACCCCCCGGCTCTTTGAGTGTTCCAACAAGACTGGGCGCTTCCTGGCCACAGAGATCCCTGACTTCAATCAGGATGACTTGGAAGAGGATGATGTGTTCCTACTAGATGTCTGGGACCAG
Seq A exon
GTCTTCTTCTGGATTGGGAAACATGCCAACGAGGAGGAGAAGAAGGCCGCAGCAACCACTGCACAGGAATACCTCAAGACCCATCCCAGCGGGCGTGACCCTGAGACCCCCATCATTGTGGTGAAGCAGGGACACGAGCCCCCCACCTTCACAGGCTGGTTCCTGGCTTGGGATCCCTTCAAGTGGAGT
Seq C2 exon
AACACCAAATCCTATGAGGACCTGAAGGCGGAGCTTGGCAACTCTAGGGACTGGAGCCAGATCACTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831-'28-22,'28-21,30-22=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.413 C2=0.043
Domain overlap (PFAM):

C1:
PF0062617=Gelsolin=PU(34.2=55.1)
A:
PF0062617=Gelsolin=PD(63.3=79.4)
C2:
NO


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:
GAAAACCTGGTCATCACCCCC
R:
AGCAGTGATCTGGCTCCAGTC
Band lengths:
204-393
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains