HsaEX0006135 @ hg38
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19981933-20010508:-
Coord C1 exon
chr22:20010455-20010508
Coord A exon
chr22:19990585-19990812
Coord C2 exon
chr22:19981933-19982091
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_MULTIEX1-2/4=1-C2
Average complexity
S
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=0.717 C2=1.000
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
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