HsaEX0043390 @ hg38
Exon Skipping
Gene
ENSG00000148400 | NOTCH1
Description
notch 1 [Source:HGNC Symbol;Acc:HGNC:7881]
Coordinates
chr9:136515981-136517937:-
Coord C1 exon
chr9:136517752-136517937
Coord A exon
chr9:136517272-136517385
Coord C2 exon
chr9:136515981-136516094
Length
114 bp
Sequences
Splice sites
3' ss Seq
ACTGTTGCCCCACCCCACAGGCT
3' ss Score
9.61
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
Exon sequences
Seq C1 exon
GTGCCAACCCCTGCGAGCATGCGGGCAAGTGCATCAACACGCTGGGCTCCTTCGAGTGCCAGTGTCTGCAGGGCTACACGGGCCCCCGATGCGAGATCGACGTCAACGAGTGCGTCTCGAACCCGTGCCAGAACGACGCCACCTGCCTGGACCAGATTGGGGAGTTCCAGTGCATCTGCATGCCCG
Seq A exon
GCTACGAGGGTGTGCACTGCGAGGTCAACACAGACGAGTGTGCCAGCAGCCCCTGCCTGCACAATGGCCGCTGCCTGGACAAGATCAATGAGTTCCAGTGCGAGTGCCCCACGG
Seq C2 exon
GCTTCACTGGGCATCTGTGCCAGTACGATGTGGACGAGTGTGCCAGCACCCCCTGCAAGAATGGTGCCAAGTGCCTGGACGGACCCAACACTTACACCTGTGTGTGCACGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148400-'26-16,'26-15,27-16
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:
PF0764510=EGF_CA=PD(79.5=49.2),PF0764510=EGF_CA=PU(72.5=46.0)
A:
PF0764510=EGF_CA=PD(25.0=25.6),PF0000822=EGF=PU(80.6=64.1)
C2:
PF0000822=EGF=PD(16.1=12.8),PF0000822=EGF=PU(80.6=64.1)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAAGTGCATCAACACGCTG
R:
TGTAAGTGTTGGGTCCGTCCA
Band lengths:
258-372
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development