HsaEX0006134 @ hg38
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19990585-20016808:-
Coord C1 exon
chr22:20016589-20016808
Coord A exon
chr22:20010455-20010508
Coord C2 exon
chr22:19990585-19990812
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_MULTIEX1-1/4=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=0.717
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
Cow
(bosTau6)
No conservation detected
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