HsaEX6067529 @ hg38
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57803524-57807489:-
Coord C1 exon
chr12:57807331-57807489
Coord A exon
chr12:57806360-57806539
Coord C2 exon
chr12:57803524-57803669
Length
180 bp
Sequences
Splice sites
3' ss Seq
TCTGCTTTTCTTCTCTCTAGGGT
3' ss Score
12.36
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
GGCCGCCACGCCTCACAGGATGAGCTGGCAGCCTCAGCATACCAGGCAGTGGAGGTGGATCGGCAGTTTGATGGGGCTGCTGTGCAGGTTCGAGTCAGGATGGGAACGGAGCCACGCCACTTCATGGCCATCTTCAAAGGGAAGCTAGTTATCTTTGAG
Seq A exon
GGTGGGACTTCCAGGAAGGGAAATGCCGAGCCTGACCCTCCAGTAAGACTCTTCCAAATTCATGGAAATGACAAATCTAACACCAAAGCAGTGGAAGTTCCAGCCTTTGCCTCCTCCCTAAACTCCAATGATGTCTTTCTGCTGCGAACTCAGGCAGAGCACTACCTGTGGTATGGCAAG
Seq C2 exon
GGGTCTAGTGGGGATGAGCGGGCAATGGCTAAGGAGCTGGCCAGCCTTCTCTGTGATGGCAGCGAGAACACTGTGGCCGAGGGCCAGGAGCCAGCCGAGTTCTGGGACCTACTGGGAGGGAAAACTCCCTATGCCAATGATAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407-'22-26,'22-24,23-26=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.217 C2=0.020
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(49.4=77.4)
A:
PF0062617=Gelsolin=PU(48.6=56.7)
C2:
PF0062617=Gelsolin=PD(48.6=69.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTCAGCATACCAGGCAGTG
R:
TTTTCCCTCCCAGTAGGTCCC
Band lengths:
252-432
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains