HsaEX6064052 @ hg38
Exon Skipping
Gene
ENSG00000148400 | NOTCH1
Description
notch 1 [Source:HGNC Symbol;Acc:HGNC:7881]
Coordinates
chr9:136508232-136509961:-
Coord C1 exon
chr9:136509733-136509961
Coord A exon
chr9:136508870-136509071
Coord C2 exon
chr9:136508232-136508385
Length
202 bp
Sequences
Splice sites
3' ss Seq
GCCTGCCCACCCCCTTGCAGCTC
3' ss Score
10.14
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
ACCCGTGTCACAACGGGGGCTCCTGCACAGACGGCATCAACACGGCCTTCTGCGACTGCCTGCCCGGCTTCCGGGGCACTTTCTGTGAGGAGGACATCAACGAGTGTGCCAGTGACCCCTGCCGCAACGGGGCCAACTGCACGGACTGCGTGGACAGCTACACGTGCACCTGCCCCGCAGGCTTCAGCGGGATCCACTGTGAGAACAACACGCCTGACTGCACAGAGAG
Seq A exon
CTCCTGCTTCAACGGTGGCACCTGCGTGGACGGCATCAACTCGTTCACCTGCCTGTGTCCACCCGGCTTCACGGGCAGCTACTGCCAGCACGATGTCAATGAGTGCGACTCACAGCCCTGCCTGCATGGCGGCACCTGTCAGGACGGCTGCGGCTCCTACAGGTGCACCTGCCCCCAGGGCTACACTGGCCCCAACTGCCAG
Seq C2 exon
AACCTTGTGCACTGGTGTGACTCCTCGCCCTGCAAGAACGGCGGCAAATGCTGGCAGACCCACACCCAGTACCGCTGCGAGTGCCCCAGCGGCTGGACCGGCCTTTACTGCGACGTGCCCAGCGTGTCCTGTGAGGTGGCTGCGCAGCGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148400-'42-34,'42-33,43-34
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=PD(87.1=35.1),PF0000822=EGF=WD(100=40.3),PF0000822=EGF=PU(9.7=3.9)
A:
PF0000822=EGF=PD(87.1=39.7),PF0000822=EGF=WD(100=45.6)
C2:
PF0000822=EGF=WD(100=59.6)
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:
ATCAACACGGCCTTCTGCG
R:
GTCGCAGTAAAGGCCGGTC
Band lengths:
308-510
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains