HsaEX0007363 @ hg38
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57807331-57808294:-
Coord C1 exon
chr12:57808194-57808294
Coord A exon
chr12:57807590-57807727
Coord C2 exon
chr12:57807331-57807489
Length
138 bp
Sequences
Splice sites
3' ss Seq
GTGTCTCCTTCTATGCCCAGGTC
3' ss Score
8.8
5' ss Seq
CAGGTAGGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
CTAAAGTTTTCCAGGATAAATTTGATGTGACTCTGCTACACACCAAGCCAGAGGTAGCTGCCCAGGAAAGAATGGTCGATGATGGCAACGGAAAAGTTGAG
Seq A exon
GTCTGGAGAATTGAGAACCTGGAGCTGGTCCCTGTGGAGTATCAATGGTATGGCTTCTTTTATGGGGGAGACTGTTATCTGGTCCTCTACACATACGAGGTAAATGGGAAGCCACATCACATCTTGTACATCTGGCAG
Seq C2 exon
GGCCGCCACGCCTCACAGGATGAGCTGGCAGCCTCAGCATACCAGGCAGTGGAGGTGGATCGGCAGTTTGATGGGGCTGCTGTGCAGGTTCGAGTCAGGATGGGAACGGAGCCACGCCACTTCATGGCCATCTTCAAAGGGAAGCTAGTTATCTTTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407-'20-22,'20-20,21-22=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0062617=Gelsolin=PU(48.2=87.0)
C2:
PF0062617=Gelsolin=PD(49.4=77.4)
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:
AATTTGATGTGACTCTGCTACACAC
R:
CTCAAAGATAACTAGCTTCCCTTTGA
Band lengths:
242-380
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