HsaEX0006127 @ hg38
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19969896-19971971:-
Coord C1 exon
chr22:19971886-19971971
Coord A exon
chr22:19971216-19971335
Coord C2 exon
chr22:19969896-19970743
Length
120 bp
Sequences
Splice sites
3' ss Seq
TGCCCACCCGTGCGCTGCAGCTC
3' ss Score
6.37
5' ss Seq
CTGGTACGT
5' ss Score
9.57
Exon sequences
Seq C1 exon
ACGGATACTCCACGGTGGACCGGAGGGAGCGGAGGCCACGGGGCGCCAGCTCTGCAGGAGAGGCCTCTGAGAAGGAACCCTTGAAA
Seq A exon
CTCGACCCCAGCAGGAAGGCCCCTCCCCCCGGGCCCAGCAGGCCCGCGGTCAGGCTGGTGGACGCCGTAGGGGACGCTAAGCCTCAGCCCGTTGATTCCTGGGTCTAGCTTGCATGCCTG
Seq C2 exon
GGCCCAGGCCCAGCCTCTTGTTCTTAGGGCTTGGATCGTGGAAGAAGGGCCACCCTGAGCAGATCGTGCCGTGGAGCTTGGAGCCCCCTGGCGGCAGGGGTTGGCAGCGCCTCGCCCCAGCCAAGCCTGACTTTGGGGACACCCTCCTGCCCCCCCACCCCACTCCCCCCATCCTACCTAACTCCCTAGGCCTGAGTTAGCTGTTTACTGACATGGTGCTGTGTGTGAGCGAGTGACAGAAGGCCCGAGGAGGCCGACTGGGCTGCTGGGGCAGGGCCCAGGGAGGTGGCAGGGAAGGGTGCCTGGCTGGGCTTTGGGGCTGGTGGGATAGGAGGGTGCCCCTGGGAACACAGTGCCCCAGTGGTGCGGGCCAGGTCTGGCGCCAGGGGCAGGCAGCTAGGCAGGGAGGGGGCTGGGAAAGAACTTGGACTTCTAAAGGCGGAGGGTCTCCCTGGGCACCCTGCAGGCAGGCAGACCACGGTGTGGGGGGTGCCCCACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889-'44-54,'44-52,46-54
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=NA
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NA
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:
AGAGGCCTCTGAGAAGGAACC
R:
CACACACAGCACCATGTCAGT
Band lengths:
255-375
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