HsaEX0056672 @ hg38
Exon Skipping
Gene
ENSG00000175356 | SCUBE2
Description
signal peptide, CUB domain and EGF like domain containing 2 [Source:HGNC Symbol;Acc:HGNC:30425]
Coordinates
chr11:9050606-9053215:-
Coord C1 exon
chr11:9053099-9053215
Coord A exon
chr11:9052746-9052832
Coord C2 exon
chr11:9050606-9050710
Length
87 bp
Sequences
Splice sites
3' ss Seq
ATTGACATTCTGTCTGTCAGGAC
3' ss Score
6.75
5' ss Seq
GGGGTAATT
5' ss Score
5.8
Exon sequences
Seq C1 exon
AAGTGAAGGGGCTCCTGCCCACAAGTGTGTCACCCCGTGTGTCCCTGCACTGCGGTAAGAGTGGTGGAGGAGACGGGTGCTTCCTCAGATGTCACTCTGGCATTCACCTCTCTTCAG
Seq A exon
GACTGCAAGGGGCCTACTCTGTCACCTGTGGCTCTTCCTCTCCTCTCAGGAACAAACAACAAAAATCAAATGACTCTGCTTTTGGGG
Seq C2 exon
ATGTCACCACCATCAGGACAAGTGTAACCTTTAAGCTAAATGAAGGCAAGTGTAGTTTGAAAAATGCTGAGCTGTTTCCCGAGGGTCTGCGACCAGCACTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175356-'32-45,'32-43,33-45
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.200 C2=0.022
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGTGTGTCACCCCGTGTG
R:
CTCGGGAAACAGCTCAGCATT
Band lengths:
179-266
Functional annotations
There are 1 annotated functions for this event
PMID: 32249828
[CRISPR screen]. This alternative exon is implicated in cell fitness by a CRISPR-based exon deletion phenotypic screen in RPE-1 cells.
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