Special

HsaEX0043404 @ hg19

Exon Skipping

Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:7883]
Coordinates
chr19:15270445-15276326:-
Coord C1 exon
chr19:15276179-15276326
Coord A exon
chr19:15273276-15273373
Coord C2 exon
chr19:15270445-15272525
Length
98 bp
Sequences
Splice sites
3' ss Seq
CTCTCCCCTTCATCCTCCAGGGA
3' ss Score
11.5
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
ATTCTCATCCGAAACCGCTCTACAGACTTGGATGCCCGCATGGCAGATGGCTCAACGGCACTGATCCTGGCGGCCCGCCTGGCAGTAGAGGGCATGGTGGAAGAGCTCATCGCCAGCCATGCTGATGTCAATGCTGTGGATGAGCTTG
Seq A exon
GGAAATCAGCCTTACACTGGGCTGCGGCTGTGAACAACGTGGAAGCCACTTTGGCCCTGCTCAAAAATGGAGCCAATAAGGACATGCAGGATAGCAAG
Seq C2 exon
GAGGAGACCCCCCTATTCCTGGCCGCCCGCGAGGGCAGCTATGAGGCTGCCAAGCTGCTGTTGGACCACTTTGCCAACCGTGAGATCACCGACCACCTGGACAGGCTGCCGCGGGACGTAGCCCAGGAGAGACTGCACCAGGACATCGTGCGCTTGCTGGATCAACCCAGTGGGCCCCGCAGCCCCCCCGGTCCCCACGGCCTGGGGCCTCTGCTCTGTCCTCCAGGGGCCTTCCTCCCTGGCCTCAAAGCGGCACAGTCGGGGTCCAAGAAGAGCAGGAGGCCCCCCGGGAAGGCGGGGCTGGGGCCGCAGGGGCCCCGGGGGCGGGGCAAGAAGCTGACGCTGGCCTGCCCGGGCCCCCTGGCTGACAGCTCGGTCACGCTGTCGCCCGTGGACTCGCTGGACTCCCCGCGGCCTTTCGGTGGGCCCCCTGCTTCCCCTGGTGGCTTCCCCCTTGAGGGGCCCTATGCAGCTGCCACTGCCACTGCAGTGTCTCTGGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181_CASSETTE1
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=0.333 C2=0.831
Domain overlap (PFAM):

C1:
PF127962=Ank_2=PD(14.3=26.0),PF127962=Ank_2=PU(31.2=58.0)
A:
PF127962=Ank_2=FE(34.4=100)
C2:
PF127962=Ank_2=PD(32.3=8.5),PF119363=DUF3454=WD(100=19.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCATGCTGATGTCAATGCT
R:
ATGTCCTGGTGCAGTCTCTCC
Band lengths:
180-278
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