HsaEX0007366 @ hg38
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57803247-57806539:-
Coord C1 exon
chr12:57806360-57806539
Coord A exon
chr12:57803524-57803669
Coord C2 exon
chr12:57803247-57803391
Length
146 bp
Sequences
Splice sites
3' ss Seq
TCTCCTCGCCCCACTCTCAGGGG
3' ss Score
8.63
5' ss Seq
AAGGTATGG
5' ss Score
9.26
Exon sequences
Seq C1 exon
GGTGGGACTTCCAGGAAGGGAAATGCCGAGCCTGACCCTCCAGTAAGACTCTTCCAAATTCATGGAAATGACAAATCTAACACCAAAGCAGTGGAAGTTCCAGCCTTTGCCTCCTCCCTAAACTCCAATGATGTCTTTCTGCTGCGAACTCAGGCAGAGCACTACCTGTGGTATGGCAAG
Seq A exon
GGGTCTAGTGGGGATGAGCGGGCAATGGCTAAGGAGCTGGCCAGCCTTCTCTGTGATGGCAGCGAGAACACTGTGGCCGAGGGCCAGGAGCCAGCCGAGTTCTGGGACCTACTGGGAGGGAAAACTCCCTATGCCAATGATAAAAG
Seq C2 exon
ACTTCAGCAGGAAATCCTAGATGTCCAGTCTCGTCTCTTTGAATGTTCCAATAAGACCGGCCAATTCGTTGTCACTGAGATCACAGACTTCACCCAGGATGACCTGAACCCTACTGACGTGATGCTCCTAGATACCTGGGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.217 A=0.020 C2=0.000
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(48.6=56.7)
A:
PF0062617=Gelsolin=PD(48.6=69.4)
C2:
PF0062617=Gelsolin=PU(34.2=55.1)
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:
CTTCCAGGAAGGGAAATGCCG
R:
TCAGTGACAACGAATTGGCCG
Band lengths:
251-397
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