HsaEX0069379 @ hg38
Exon Skipping
Gene
ENSG00000107731 | UNC5B
Description
unc-5 netrin receptor B [Source:HGNC Symbol;Acc:HGNC:12568]
Coordinates
chr10:71288568-71291109:+
Coord C1 exon
chr10:71288568-71288732
Coord A exon
chr10:71288958-71288990
Coord C2 exon
chr10:71290915-71291109
Length
33 bp
Sequences
Splice sites
3' ss Seq
CCCTTTATTTCCCTTGACAGATA
3' ss Score
11.54
5' ss Seq
ACCGTAAGT
5' ss Score
10.43
Exon sequences
Seq C1 exon
TCGATGGGGCGTGGACGGAGTGGAGCAAGTGGTCAGCCTGCAGCACTGAGTGTGCCCACTGGCGTAGCCGCGAGTGCATGGCGCCCCCACCCCAGAACGGAGGCCGTGACTGCAGCGGGACGCTGCTCGACTCTAAGAACTGCACAGATGGGCTGTGCATGCAAA
Seq A exon
ATAAGAAAACTCTAAGCGACCCCAACAGCCACC
Seq C2 exon
TGCTGGAGGCCTCAGGGGATGCGGCGCTGTATGCGGGGCTCGTGGTGGCCATCTTCGTGGTCGTGGCAATCCTCATGGCGGTGGGGGTGGTGGTGTACCGCCGCAACTGCCGTGACTTCGACACAGACATCACTGACTCATCTGCTGCCCTGACTGGTGGTTTCCACCCCGTCAACTTTAAGACGGCAAGGCCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107731_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.167 C2=0.015
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:
GGACGCTGCTCGACTCTAAGA
R:
GATTGCCACGACCACGAAGAT
Band lengths:
119-152
Functional annotations
There are 1 annotated functions for this event
PMID: 34381052
In the absence of Netrin-1, UNC5B induces apoptosis that is blocked upon Netrin-1 binding. Here, the authors identify an UNC5B splicing isoform (called UNC5B-delta8) expressed exclusively by ECs and generated through exon skipping by NOVA2, an alternative splicing factor regulating vascular development. UNC5B-delta8 is a constitutively pro-apoptotic splicing isoform insensitive to Netrin-1 and required for specific blood vessel development (in zebrafish) in an apoptosis-dependent manner. Like NOVA2, UNC5B-delta8 is aberrantly expressed in colon cancer vasculature where its expression correlates with tumor angiogenesis and poor patient outcome.
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