HsaEX0043410 @ hg38
Exon Skipping
Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:HGNC:7883]
Coordinates
chr19:15181576-15185019:-
Coord C1 exon
chr19:15184906-15185019
Coord A exon
chr19:15184295-15184450
Coord C2 exon
chr19:15181576-15181801
Length
156 bp
Sequences
Splice sites
3' ss Seq
ACCTTGCTCCCTACCCCCAGGCC
3' ss Score
11.33
5' ss Seq
CCAGTGAGT
5' ss Score
8.28
Exon sequences
Seq C1 exon
GACGTCAGTGTGAACTCCTCTCCCCCTGCACCCCGAACCCCTGTGAGCATGGGGGCCGCTGCGAGTCTGCCCCTGGCCAGCTGCCTGTCTGCTCCTGCCCCCAGGGCTGGCAAG
Seq A exon
GCCCACGATGCCAGCAGGATGTGGACGAGTGTGCTGGCCCCGCACCCTGTGGCCCTCATGGTATCTGCACCAACCTGGCAGGGAGTTTCAGCTGCACCTGCCATGGAGGGTACACTGGCCCTTCCTGCGATCAGGACATCAATGACTGTGACCCCA
Seq C2 exon
ACCCATGCCTGAACGGTGGCTCGTGCCAAGACGGCGTGGGCTCCTTTTCCTGCTCCTGCCTCCCTGGTTTCGCCGGCCCACGATGCGCCCGCGATGTGGATGAGTGCCTGAGCAACCCCTGCGGCCCGGGCACCTGTACCGACCACGTGGCCTCCTTCACCTGCACCTGCCCGCCAGGCTACGGAGGCTTCCACTGCGAACAGGACCTGCCCGACTGCAGCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181_MULTIEX1-4/4=3-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=PD(6.5=5.1),PF0000822=EGF=WD(100=76.9),PF0000822=EGF=PU(3.4=2.6)
A:
PF0000822=EGF=PD(6.2=3.8),PF0764510=EGF_CA=WD(100=73.6),PF0000822=EGF=PU(9.7=5.7)
C2:
PF0000822=EGF=PD(0.1=0.0),PF0000822=EGF=PD(93.1=35.5),PF0764510=EGF_CA=WD(100=59.2),PF0000822=EGF=PU(9.7=3.9)
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:
GTGTGAACTCCTCTCCCCCTG
R:
CCACGTGGTCGGTACAGGT
Band lengths:
257-413
Functional annotations
There are 1 annotated functions for this event
PMID: 30674940
This study does not directly assess the function of the events. It reports that NOTCH3 has differential exon 16 depletion (-exon 16) between differentiation associated BAGS subtypes. Predicted vincristine resistant patients of the GCB subclass had significantly downregulated NOTCH3 -exon 16 transcript expression and tended to display adverse overall survival for R-CHOP treated patients. Thus, this exon display prognostic and predictive biomarker potential in GCB DLBCL.
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