HsaEX0056331 @ hg38
Exon Skipping
Gene
ENSG00000139697 | SBNO1
Description
strawberry notch homolog 1 [Source:HGNC Symbol;Acc:HGNC:22973]
Coordinates
chr12:123345258-123350441:-
Coord C1 exon
chr12:123350310-123350441
Coord A exon
chr12:123348029-123348133
Coord C2 exon
chr12:123345258-123345567
Length
105 bp
Sequences
Splice sites
3' ss Seq
TGATGTTGTTTTCTCTCCAGTCA
3' ss Score
8.12
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
ATGGTGGAGCCAGGGCAAGATTTACTGCTTGCTGCTTTGAGTGAGAGTGGAATTAGTCCGAATGACCTCTTTGATATTGATGGTGGAGATGCAGGGCTTGCAACTCCAATGCCTACCCCGTCAGTTCAGCAG
Seq A exon
TCAGTGCCACTTAGTGCATTAGAACTAGGTTTGGAGACCGAAGCAGCAGTTCCTGTTAAACAAGAACCAGAGACTGTACCTACTCCAGCACTATTAAATGTGAGG
Seq C2 exon
CAGCCTCCATCTACTACAACATTTGTGCTGAATCAAATAAATCATCTTCCACCCTTGGGATCTACAATTGTAATGACTAAAACACCACCTGTAACAACCAACAGGCAAACCATCACTTTAACTAAGTTTATCCAGACTACTGCAAGCACACGCCCGTCAGTCTCAGCACCAACAGTACGAAATGCCATGACCTCTGCACCTTCAAAAGACCAAGTTCAGCTTAAAGATCTACTGAAAAATAATAGTCTTAATGAACTGATGAAACTAAAGCCACCTGCTAATATTGCTCAGCCAGTAGCAACAGCAGCTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139697_MULTIEX1-4/6=2-5
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.623 A=0.829 C2=0.846
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000267176fB25156
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCAGGGCAAGATTTACTGC
R:
AGTGATGGTTTGCCTGTTGGT
Band lengths:
242-347
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