HsaEX6067531 @ hg38
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57799795-57803391:-
Coord C1 exon
chr12:57803247-57803391
Coord A exon
chr12:57801144-57801212
Coord C2 exon
chr12:57799795-57799920
Length
69 bp
Sequences
Splice sites
3' ss Seq
TTTCTCTCTCTTCTTCTCAGGCA
3' ss Score
10.81
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
Exon sequences
Seq C1 exon
ACTTCAGCAGGAAATCCTAGATGTCCAGTCTCGTCTCTTTGAATGTTCCAATAAGACCGGCCAATTCGTTGTCACTGAGATCACAGACTTCACCCAGGATGACCTGAACCCTACTGACGTGATGCTCCTAGATACCTGGGACCAG
Seq A exon
GCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCT
Seq C2 exon
GACATGAAGAATGCAACCCTCTCCCTGAATTCTAATGACAGTGAGCCAAAATATTACCCTATAGCAGTTCTGTTGAAAAACCAGAATCAGGAGCTGCCTGAGGATGTAAACCCTGCCAAAAAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407_MULTIEX2-2/3=C1-3
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.238
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(34.2=55.1)
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000257861fB10311
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:
CAGACTTCACCCAGGATGACC
R:
GGGTTTACATCCTCAGGCAGC
Band lengths:
175-244
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains