HsaEX0006134 @ hg19
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:728]
Coordinates
chr22:19978108-20004331:-
Coord C1 exon
chr22:20004112-20004331
Coord A exon
chr22:19997978-19998031
Coord C2 exon
chr22:19978108-19978335
Length
54 bp
Sequences
Splice sites
3' ss Seq
GCCCTCTGGTTTCCCTGCAGGAG
3' ss Score
11.61
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GAGGGCGGGAGGGCTGGCCCGGGGTCTCGGGTTGCGCGCTGGGCCTGGAGGGAGGGGGCGGCCCCCGCACCGGTCCGAGTTGCGGCCGCGTGGACTGCGACCCGCGCCGCGCCGCACCGCGCCGCGCCCTGGGAACGCCGCTCCCCGCGCGCCAACGGACCCGGGGAAGCCCTTCTGGGGTCCGAGGCCGCGCTGCGGGGCCGCCCACGCTGCGCTCCAG
Seq A exon
GAGCCAGAGCCTGCAGGGTGGGTGTCGGGACATGCTGATCTTCCCTCAAGACAG
Seq C2 exon
CTGGCGGGCGCTCTGGTCATGGAGGACTGCAATGTGCACTCGGCCGCCAGCATCCTGGCCTCGGTGAAGGAGCAGGAGGCCCGCTTCGAGAGGCTGACACGGGCACTGGAGCAGGAGCGGCGCCATGTTGCCCTACAGCTGGAGCGTGCCCAGCAGCCTGGCATGGTCAGTGGTGGCATGGGCAGTGGGCAGCCCCTGCCAATGGCCTGGCAACAGCTGGTCCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889_MULTIEX2-1/2=C1-2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.771
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCCGGGGAAGCCCTTC
R:
CTCCTGCTCCTTCACCGAGG
Band lengths:
141-195
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)