HsaEX6067527 @ hg19
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:14188]
Coordinates
chr12:58201977-58203478:-
Coord C1 exon
chr12:58203380-58203478
Coord A exon
chr12:58202178-58202331
Coord C2 exon
chr12:58201977-58202077
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-'10-10,'10-9,11-10=AN
Average complexity
A_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 Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)