HsaEX6025825 @ hg38
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19974112-19977586:-
Coord C1 exon
chr22:19977415-19977586
Coord A exon
chr22:19975686-19975757
Coord C2 exon
chr22:19974112-19974239
Length
72 bp
Sequences
Splice sites
3' ss Seq
CCACCACCTTTCCCTTCCAGGAA
3' ss Score
11.72
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
TCGGTGGAGAACTGCGTGTGCATCATGCGGAACCTGTCCTACCACGTGCACAAGGAGGTGCCCGGGGCCGACAGGTACCAGGAGGCCGAGCCCGGGCCCCTGGGCAGTGCTGTAGGCTCCCAGCGCCGGAGGCGGGATGATGCCAGCTGCTTTGGAGGCAAGAAGGCCAAAG
Seq A exon
GAAAGAAGGATGGTGAGATGGACCGGAACTTTGACACGCTAGACCTGCCCAAGCGAACTGAGGCCGCCAAAG
Seq C2 exon
GCTTTGAGCTGCTGTACCAGCCCGAGGTGGTACGTCTCTACCTCTCCCTCCTCACGGAGAGCCGGAACTTCAACACCCTGGAGGCTGCCGCCGGCGCTCTGCAGAACCTCAGTGCCGGCAACTGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889-'29-42,'29-39,32-42=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.429 A=0.389 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF136461=HEAT_2=PU(11.0=40.0)
C2:
PF136461=HEAT_2=FE(46.2=100)
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:
CTGTCCTACCACGTGCACAAG
R:
GTAGAGACGTACCACCTCGGG
Band lengths:
180-252
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains