HsaEX0006128 @ hg38
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19971886-19972827:-
Coord C1 exon
chr22:19972737-19972827
Coord A exon
chr22:19972358-19972411
Coord C2 exon
chr22:19971886-19971971
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTCCTCCTCCTGCCTTGCAGAGG
3' ss Score
10.07
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
TCAGCTGCTGCTACTGCCAAGGGGCCTAAGGGAGCACTGAGTCCTGGGGGCTTCGATGACAGCACGCTGCCACTGGTGGACAAGAGCCTTG
Seq A exon
AGGGCGAGAAAACTGGCAGCCGGGATGTGATCCCCATGGATGCGCTGGGCCCAG
Seq C2 exon
ACGGATACTCCACGGTGGACCGGAGGGAGCGGAGGCCACGGGGCGCCAGCTCTGCAGGAGAGGCCTCTGAGAAGGAACCCTTGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.903 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
NO
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:
TAAGGGAGCACTGAGTCCTGG
R:
GGTTCCTTCTCAGAGGCCTCT
Band lengths:
144-198
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