HsaEX6093544 @ hg38
Exon Skipping
Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:HGNC:7883]
Coordinates
chr19:15180961-15184450:-
Coord C1 exon
chr19:15184295-15184450
Coord A exon
chr19:15181576-15181801
Coord C2 exon
chr19:15180961-15181162
Length
226 bp
Sequences
Splice sites
3' ss Seq
CGCCTTCCTCCTGTCCGCAGACC
3' ss Score
13.21
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
Exon sequences
Seq C1 exon
GCCCACGATGCCAGCAGGATGTGGACGAGTGTGCTGGCCCCGCACCCTGTGGCCCTCATGGTATCTGCACCAACCTGGCAGGGAGTTTCAGCTGCACCTGCCATGGAGGGTACACTGGCCCTTCCTGCGATCAGGACATCAATGACTGTGACCCCA
Seq A exon
ACCCATGCCTGAACGGTGGCTCGTGCCAAGACGGCGTGGGCTCCTTTTCCTGCTCCTGCCTCCCTGGTTTCGCCGGCCCACGATGCGCCCGCGATGTGGATGAGTGCCTGAGCAACCCCTGCGGCCCGGGCACCTGTACCGACCACGTGGCCTCCTTCACCTGCACCTGCCCGCCAGGCTACGGAGGCTTCCACTGCGAACAGGACCTGCCCGACTGCAGCCCCAG
Seq C2 exon
CTCCTGCTTCAATGGCGGGACCTGTGTGGACGGCGTGAACTCGTTCAGCTGCCTGTGCCGTCCCGGCTACACAGGAGCCCACTGCCAACATGAGGCAGACCCCTGCCTCTCGCGGCCCTGCCTACACGGGGGCGTCTGCAGCGCCGCCCACCCTGGCTTCCGCTGCACCTGCCTCGAGAGCTTCACGGGCCCGCAGTGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181-'23-24,'23-23,25-24=AN
Average complexity
A_C1
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(6.2=3.8),PF0764510=EGF_CA=WD(100=73.6),PF0000822=EGF=PU(9.7=5.7)
A:
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)
C2:
PF0764510=EGF_CA=PD(0.1=0.0),PF0000822=EGF=PD(87.1=39.7),PF0000822=EGF=WD(100=45.6)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGTGGCCCTCATGGTATCT
R:
TGAAGCTCTCGAGGCAGGTG
Band lengths:
296-522
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains