HsaEX0007368 @ hg38
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57808395-57809890:-
Coord C1 exon
chr12:57809812-57809890
Coord A exon
chr12:57809597-57809695
Coord C2 exon
chr12:57808395-57808548
Length
99 bp
Sequences
Splice sites
3' ss Seq
CCTATCTCTGGCTGCTTTAGGAC
3' ss Score
8.91
5' ss Seq
CTGGTAGGA
5' ss Score
6.77
Exon sequences
Seq C1 exon
TATCTCAGATTCAGCTGGGCAGCTGGCAGTCACAGAGGTAGCAACAAGGCCTCTGGTCCAGGACTTACTGAACCATGAT
Seq A exon
GACTGCTACATCCTGGACCAAAGTGGAACCAAAATCTACGTGTGGAAAGGAAAAGGAGCCACAAAGGCTGAAAAACAGGCAGCCATGTCTAAAGCGCTG
Seq C2 exon
GGCTTCATCAAGATGAAGAGCTACCCCAGCAGCACCAATGTGGAGACCGTCAACGATGGTGCTGAGTCGGCCATGTTCAAGCAGCTGTTCCAGAAGTGGTCAGTAAAGGACCAGACCATGGGCCTGGGGAAAACGTTCAGCATTGGTAAAATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407_MULTIEX3-3/3=2-C2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.019
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 Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTCTGGTCCAGGACTTACT
R:
ATGCTGAACGTTTTCCCCAGG
Band lengths:
174-273
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