HsaEX0007367 @ hg19
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:14188]
Coordinates
chr12:58202178-58204334:-
Coord C1 exon
chr12:58204132-58204334
Coord A exon
chr12:58203595-58203673
Coord C2 exon
chr12:58202178-58202331
Length
79 bp
Sequences
Splice sites
3' ss Seq
TAACCTCTCCCCTTCTCCAGTAT
3' ss Score
8.18
5' ss Seq
GATGTAAGT
5' ss Score
9.11
Exon sequences
Seq C1 exon
GCTATGCTTCTGGCAAAGGATATTCGAGACAGGGAGCGAGGGGGCCGTGCTAAAATAGGAGTGATCGAGGGAGACAAGGAGGCAGCCAGCCCAGAGCTGATGAAGGTCCTTCAGGACACCCTTGGCCGACGCTCCATTATCAAGCCTACAGTCCCTGATGAGATCATAGATCAGAAGCAGAAATCAACTATCATGTTGTATCA
Seq A exon
TATCTCAGATTCAGCTGGGCAGCTGGCAGTCACAGAGGTAGCAACAAGGCCTCTGGTCCAGGACTTACTGAACCATGAT
Seq C2 exon
GGCTTCATCAAGATGAAGAGCTACCCCAGCAGCACCAATGTGGAGACCGTCAACGATGGTGCTGAGTCGGCCATGTTCAAGCAGCTGTTCCAGAAGTGGTCAGTAAAGGACCAGACCATGGGCCTGGGGAAAACGTTCAGCATTGGTAAAATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407_MULTIEX1-2/3=1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.059 A=0.000 C2=0.019
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(40.0=44.1)
A:
PF0062617=Gelsolin=PU(21.8=63.0)
C2:
PF0062617=Gelsolin=PD(33.3=50.0)
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:
CGACGCTCCATTATCAAGCCT
R:
GAACAGCTGCTTGAACATGGC
Band lengths:
167-246
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)