HsaEX0006129 @ hg38
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19972925-19973793:-
Coord C1 exon
chr22:19973643-19973793
Coord A exon
chr22:19973119-19973317
Coord C2 exon
chr22:19972925-19973036
Length
199 bp
Sequences
Splice sites
3' ss Seq
CACCTAGTCCTGCCCCTCAGGGA
3' ss Score
6.18
5' ss Seq
CAGGTGTGG
5' ss Score
6.34
Exon sequences
Seq C1 exon
TGGGCCACGTACATCCGCGCCACAGTGCGCAAAGAGCGCGGGCTGCCGGTGCTTGTGGAACTGCTGCAGTCTGAGACCGACAAGGTGGTGCGCGCCGTCGCCATCGCTCTGCGCAACCTCTCGCTGGACCGGCGCAACAAAGACCTCATCG
Seq A exon
GGAGCTACGCCATGGCTGAGCTTGTGCGGAATGTGCGCAATGCACAGGCTCCGCCGCGACCGGGGGCCTGCCTGGAGGAAGACACCGTGGTGGCGGTGCTCAACACCATCCACGAAATCGTGTCCGACAGCCTGGATAACGCGCGCTCGCTCCTGCAGGCACGCGGGGTGCCAGCGTTGGTGGCTCTCGTGGCCTCCAG
Seq C2 exon
CCAATCGGTACGCGAAGCGAAGGCGGCGTCACACGTGCTGCAGACAGTGTGGAGCTACAAGGAGCTGCGTGGTACCTTGCAGAAAGATGGTTGGACCAAGGCGCGCTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889_CASSETTE3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.045 C2=0.132
Domain overlap (PFAM):
C1:
PF136461=HEAT_2=PD(40.7=72.5)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTACATCCGCGCCACAG
R:
TGGTCCAACCATCTTTCTGCA
Band lengths:
242-441
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