HsaEX6067531 @ hg19
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:14188]
Coordinates
chr12:58193578-58196131:-
Coord C1 exon
chr12:58195943-58196131
Coord A exon
chr12:58194927-58194995
Coord C2 exon
chr12:58193578-58193703
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
GTGTTCTTGTGGATTGGGGCTGAGGCCAATGCCACGGAGAAGGAGAGTGCCCTTGCCACAGCACAGCAGTACCTGCACACTCACCCCAGCGGCCGAGATCCCGACACACCAATCCTGATCATTAAGCAGGGGTTTGAGCCTCCCATCTTCACAGGCTGGTTCCTAGCCTGGGACCCTAACATTTGGAGT
Seq A exon
GCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCT
Seq C2 exon
GACATGAAGAATGCAACCCTCTCCCTGAATTCTAATGACAGTGAGCCAAAATATTACCCTATAGCAGTTCTGTTGAAAAACCAGAATCAGGAGCTGCCTGAGGATGTAAACCCTGCCAAAAAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407-'18-18,'18-17,19-18=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.206 A=0.000 C2=0.238
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(63.3=79.4)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGTTTGAGCCTCCCATCTTC
R:
GGGTTTACATCCTCAGGCAGC
Band lengths:
173-242
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)