HsaEX6067527 @ hg38
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57808194-57809695:-
Coord C1 exon
chr12:57809597-57809695
Coord A exon
chr12:57808395-57808548
Coord C2 exon
chr12:57808194-57808294
Length
154 bp
Sequences
Splice sites
3' ss Seq
GGGAATGGGTGGCTCTGCAGGGC
3' ss Score
3.48
5' ss Seq
TTGGTGAGA
5' ss Score
6.29
Exon sequences
Seq C1 exon
GACTGCTACATCCTGGACCAAAGTGGAACCAAAATCTACGTGTGGAAAGGAAAAGGAGCCACAAAGGCTGAAAAACAGGCAGCCATGTCTAAAGCGCTG
Seq A exon
GGCTTCATCAAGATGAAGAGCTACCCCAGCAGCACCAATGTGGAGACCGTCAACGATGGTGCTGAGTCGGCCATGTTCAAGCAGCTGTTCCAGAAGTGGTCAGTAAAGGACCAGACCATGGGCCTGGGGAAAACGTTCAGCATTGGTAAAATTG
Seq C2 exon
CTAAAGTTTTCCAGGATAAATTTGATGTGACTCTGCTACACACCAAGCCAGAGGTAGCTGCCCAGGAAAGAATGGTCGATGATGGCAACGGAAAAGTTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407-'17-18,'17-17,19-18
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.019 C2=0.029
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=FE(41.0=100)
A:
PF0062617=Gelsolin=PD(33.3=50.0)
C2:
NO
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:
GACTGCTACATCCTGGACCAA
R:
ACTTTTCCGTTGCCATCATCGA
Band lengths:
196-350
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains