HsaEX0006131 @ hg38
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19975686-19977586:-
Coord C1 exon
chr22:19977415-19977586
Coord A exon
chr22:19976706-19976723
Coord C2 exon
chr22:19975686-19975757
Length
18 bp
Sequences
Splice sites
3' ss Seq
TGCTTCCTCCGGCCTCCCAGAGG
3' ss Score
6.43
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
TCGGTGGAGAACTGCGTGTGCATCATGCGGAACCTGTCCTACCACGTGCACAAGGAGGTGCCCGGGGCCGACAGGTACCAGGAGGCCGAGCCCGGGCCCCTGGGCAGTGCTGTAGGCTCCCAGCGCCGGAGGCGGGATGATGCCAGCTGCTTTGGAGGCAAGAAGGCCAAAG
Seq A exon
AGGAGTGGTTCCACCAAG
Seq C2 exon
GAAAGAAGGATGGTGAGATGGACCGGAACTTTGACACGCTAGACCTGCCCAAGCGAACTGAGGCCGCCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889-'29-39,'29-35,30-39
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.429 A=0.343 C2=0.389
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF136461=HEAT_2=PU(11.0=40.0)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGCTGTAGGCTCCCAGC
R:
CGTGTCAAAGTTCCGGTCCAT
Band lengths:
105-123
Functional annotations
There are 1 annotated functions for this event
PMID: 24644279
All four isoforms co-immunoprecipitate with p68. There is an alternative promoter (N-term) and an NLS (HsaEX0006131).
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