HsaEX0007365 @ hg19
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:14188]
Coordinates
chr12:58194927-58197174:-
Coord C1 exon
chr12:58197030-58197174
Coord A exon
chr12:58195943-58196131
Coord C2 exon
chr12:58194927-58194995
Length
189 bp
Sequences
Splice sites
3' ss Seq
TTAAATCTCCACCTTAACAGGTG
3' ss Score
8.15
5' ss Seq
AGTGTAAGA
5' ss Score
4.57
Exon sequences
Seq C1 exon
ACTTCAGCAGGAAATCCTAGATGTCCAGTCTCGTCTCTTTGAATGTTCCAATAAGACCGGCCAATTCGTTGTCACTGAGATCACAGACTTCACCCAGGATGACCTGAACCCTACTGACGTGATGCTCCTAGATACCTGGGACCAG
Seq A exon
GTGTTCTTGTGGATTGGGGCTGAGGCCAATGCCACGGAGAAGGAGAGTGCCCTTGCCACAGCACAGCAGTACCTGCACACTCACCCCAGCGGCCGAGATCCCGACACACCAATCCTGATCATTAAGCAGGGGTTTGAGCCTCCCATCTTCACAGGCTGGTTCCTAGCCTGGGACCCTAACATTTGGAGT
Seq C2 exon
GCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.206 C2=0.000
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(34.2=55.1)
A:
PF0062617=Gelsolin=PD(63.3=79.4)
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:
TCAGCAGGAAATCCTAGATGTCCA
R:
AGCAGTGATTCGCATGATAGCA
Band lengths:
211-400
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)