HsaEX6064063 @ hg38
Exon Skipping
Gene
ENSG00000148400 | NOTCH1
Description
notch 1 [Source:HGNC Symbol;Acc:HGNC:7881]
Coordinates
chr9:136498899-136500847:-
Coord C1 exon
chr9:136500552-136500847
Coord A exon
chr9:136499112-136499259
Coord C2 exon
chr9:136498899-136498996
Length
148 bp
Sequences
Splice sites
3' ss Seq
AGCCTCTCCCTGTTGCCCAGATC
3' ss Score
4.6
5' ss Seq
TGGGTGAGC
5' ss Score
7.23
Exon sequences
Seq C1 exon
ATGGCTTCACCCCGCTCATGATCGCCTCCTGCAGCGGGGGCGGCCTGGAGACGGGCAACAGCGAGGAAGAGGAGGACGCGCCGGCCGTCATCTCCGACTTCATCTACCAGGGCGCCAGCCTGCACAACCAGACAGACCGCACGGGCGAGACCGCCTTGCACCTGGCCGCCCGCTACTCACGCTCTGATGCCGCCAAGCGCCTGCTGGAGGCCAGCGCAGATGCCAACATCCAGGACAACATGGGCCGCACCCCGCTGCATGCGGCTGTGTCTGCCGACGCACAAGGTGTCTTCCAG
Seq A exon
ATCCTGATCCGGAACCGAGCCACAGACCTGGATGCCCGCATGCATGATGGCACGACGCCACTGATCCTGGCTGCCCGCCTGGCCGTGGAGGGCATGCTGGAGGACCTCATCAACTCACACGCCGACGTCAACGCCGTAGATGACCTGG
Seq C2 exon
GCAAGTCCGCCCTGCACTGGGCCGCCGCCGTGAACAATGTGGATGCCGCAGTTGTGCTCCTGAAGAACGGGGCTAACAAAGATATGCAGAACAACAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148400-'61-54,'61-53,62-54=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.424 A=0.000 C2=0.212
Domain overlap (PFAM):
C1:
PF127962=Ank_2=PU(84.3=75.8)
A:
PF127962=Ank_2=PD(13.5=24.0),PF127962=Ank_2=PU(31.2=58.0)
C2:
PF127962=Ank_2=FE(34.4=100)
Main Skipping Isoform:
NA
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:
TCCGACTTCATCTACCAGGGC
R:
AACTGCGGCATCCACATTGTT
Band lengths:
257-405
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains