HsaEX0056340 @ hg38
Exon Skipping
Gene
ENSG00000064932 | SBNO2
Description
strawberry notch homolog 2 [Source:HGNC Symbol;Acc:HGNC:29158]
Coordinates
chr19:1111996-1112537:-
Coord C1 exon
chr19:1112402-1112537
Coord A exon
chr19:1112189-1112301
Coord C2 exon
chr19:1111996-1112067
Length
113 bp
Sequences
Splice sites
3' ss Seq
GAGAGCAGCTCTGCCCCCAGGCC
3' ss Score
2.4
5' ss Seq
CTGGTGAGC
5' ss Score
8.05
Exon sequences
Seq C1 exon
CTCGTGGCCATCATCTCGGAGGCCTCCAGCTCGGGTGTCTCCCTCCAAGCCGACCGCCGTGTCCAGAACCAGCGGCGCCGCGTGCACATGACCTTGGAGCTGCCGTGGAGCGCCGACCGCGCCATCCAGCAGTTCG
Seq A exon
GCCGCACCCACCGGTCCAACCAGGTCTCCGCGCCAGAGTATGTCTTCCTCATCTCGGAGCTGGCCGGGGAGCGCCGGTTCGCCTCCATCGTGGCCAAGCGCCTGGAGAGTCTG
Seq C2 exon
GGGGCCCTGACCCACGGAGACCGCCGCGCCACGGAGTCCCGTGACCTCAGCAAGTACAACTTTGAGAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064932_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.174 A=0.079 C2=0.167
Domain overlap (PFAM):
C1:
PF138711=Helicase_C_4=FE(16.1=100)
A:
PF138711=Helicase_C_4=FE(13.3=100)
C2:
PF138711=Helicase_C_4=FE(8.2=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:
CTCGTGGCCATCATCTCGGAG
R:
TCTCAAAGTTGTACTTGCTGAGGT
Band lengths:
203-316
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