HsaEX6025824 @ hg38
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19975686-19978075:-
Coord C1 exon
chr22:19977958-19978075
Coord A exon
chr22:19977415-19977586
Coord C2 exon
chr22:19975686-19975757
Length
172 bp
Sequences
Splice sites
3' ss Seq
CCACTCACCTCTCCCTGCAGTCG
3' ss Score
9.24
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
GAATGTGAGCTCCGATGGTGCTGAGGCCCGGCGGCGACTCCGGGAGTGTGAAGGGCTGGTGGACGCGCTCCTGCATGCCCTGCAGTCGGCTGTGGGCCGGAAGGACACTGACAACAAG
Seq A exon
TCGGTGGAGAACTGCGTGTGCATCATGCGGAACCTGTCCTACCACGTGCACAAGGAGGTGCCCGGGGCCGACAGGTACCAGGAGGCCGAGCCCGGGCCCCTGGGCAGTGCTGTAGGCTCCCAGCGCCGGAGGCGGGATGATGCCAGCTGCTTTGGAGGCAAGAAGGCCAAAG
Seq C2 exon
GAAAGAAGGATGGTGAGATGGACCGGAACTTTGACACGCTAGACCTGCCCAAGCGAACTGAGGCCGCCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889-'27-39,'27-32,29-39=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=0.429 C2=0.389
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF136461=HEAT_2=PU(11.0=40.0)
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:
GAATGTGAGCTCCGATGGTGC
R:
CTTTGGCGGCCTCAGTTCG
Band lengths:
190-362
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains