HsaEX0007367 @ hg38
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57808395-57810551:-
Coord C1 exon
chr12:57810349-57810551
Coord A exon
chr12:57809812-57809890
Coord C2 exon
chr12:57808395-57808548
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_MULTIEX3-2/3=1-C2
Average complexity
C3
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 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:
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