HsaEX0006131 @ hg19
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:728]
Coordinates
chr22:19963209-19965109:-
Coord C1 exon
chr22:19964938-19965109
Coord A exon
chr22:19964229-19964246
Coord C2 exon
chr22:19963209-19963280
Length
18 bp
Sequences
Splice sites
3' ss Seq
TGCTTCCTCCGGCCTCCCAGAGG
3' ss Score
6.43
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
TCGGTGGAGAACTGCGTGTGCATCATGCGGAACCTGTCCTACCACGTGCACAAGGAGGTGCCCGGGGCCGACAGGTACCAGGAGGCCGAGCCCGGGCCCCTGGGCAGTGCTGTAGGCTCCCAGCGCCGGAGGCGGGATGATGCCAGCTGCTTTGGAGGCAAGAAGGCCAAAG
Seq A exon
AGGAGTGGTTCCACCAAG
Seq C2 exon
GAAAGAAGGATGGTGAGATGGACCGGAACTTTGACACGCTAGACCTGCCCAAGCGAACTGAGGCCGCCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889_CASSETTE5
Average complexity
S*
Mappability confidence:
100%=50=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.448 A=0.343 C2=0.400
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF136461=HEAT_2=PU(11.0=40.0)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGCTGTAGGCTCCCAGC
R:
CGTGTCAAAGTTCCGGTCCAT
Band lengths:
105-123
Functional annotations
There are 1 annotated functions for this event
PMID: 24644279
This event
All four isoforms co-immunoprecipitate with p68. There is an alternative promoter (N-term) and an NLS (HsaEX0006131).
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)