HsaEX0006135 @ hg19
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:728]
Coordinates
chr22:19969456-19998031:-
Coord C1 exon
chr22:19997978-19998031
Coord A exon
chr22:19978108-19978335
Coord C2 exon
chr22:19969456-19969614
Length
228 bp
Sequences
Splice sites
3' ss Seq
TTACTCTGCTTTGCCTGCAGCTG
3' ss Score
10.77
5' ss Seq
CAGGTAACA
5' ss Score
8.88
Exon sequences
Seq C1 exon
GAGCCAGAGCCTGCAGGGTGGGTGTCGGGACATGCTGATCTTCCCTCAAGACAG
Seq A exon
CTGGCGGGCGCTCTGGTCATGGAGGACTGCAATGTGCACTCGGCCGCCAGCATCCTGGCCTCGGTGAAGGAGCAGGAGGCCCGCTTCGAGAGGCTGACACGGGCACTGGAGCAGGAGCGGCGCCATGTTGCCCTACAGCTGGAGCGTGCCCAGCAGCCTGGCATGGTCAGTGGTGGCATGGGCAGTGGGCAGCCCCTGCCAATGGCCTGGCAACAGCTGGTCCTCCAG
Seq C2 exon
GAGCAGAGCCCAGGCAGCCAGGCCTCACTGGCCACGATGCCGGAGGCACCTGATGTGCTGGAGGAGACCGTGACGGTGGAGGAGGACCCCGGCACACCCACTTCCCATGTGTCTATTGTCACATCCGAAGATGGCACAACCCGGCGCACCGAGACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889_MULTIEX2-2/2=1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.771 C2=1.000
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
NO
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCCAGAGCCTGCAGGG
R:
GGGTTGTGCCATCTTCGGAT
Band lengths:
196-424
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)