Special

HsaEX6093545 @ hg19

Exon Skipping

Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:7883]
Coordinates
chr19:15291492-15292612:-
Coord C1 exon
chr19:15292387-15292612
Coord A exon
chr19:15291772-15291973
Coord C2 exon
chr19:15291492-15291639
Length
202 bp
Sequences
Splice sites
3' ss Seq
TCCCACTCCTTCCGCTCCAGCTC
3' ss Score
7.58
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
ACCCATGCCTGAACGGTGGCTCGTGCCAAGACGGCGTGGGCTCCTTTTCCTGCTCCTGCCTCCCTGGTTTCGCCGGCCCACGATGCGCCCGCGATGTGGATGAGTGCCTGAGCAACCCCTGCGGCCCGGGCACCTGTACCGACCACGTGGCCTCCTTCACCTGCACCTGCCCGCCAGGCTACGGAGGCTTCCACTGCGAACAGGACCTGCCCGACTGCAGCCCCAG
Seq A exon
CTCCTGCTTCAATGGCGGGACCTGTGTGGACGGCGTGAACTCGTTCAGCTGCCTGTGCCGTCCCGGCTACACAGGAGCCCACTGCCAACATGAGGCAGACCCCTGCCTCTCGCGGCCCTGCCTACACGGGGGCGTCTGCAGCGCCGCCCACCCTGGCTTCCGCTGCACCTGCCTCGAGAGCTTCACGGGCCCGCAGTGCCAG
Seq C2 exon
ACGCTGGTGGATTGGTGCAGCCGCCAGCCTTGTCAAAACGGGGGTCGCTGCGTCCAGACTGGGGCCTATTGCCTTTGTCCCCCTGGATGGAGCGGACGCCTCTGTGACATCCGAAGCTTGCCCTGCAGGGAGGCCGCAGCCCAGATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181-'17-18,'17-17,18-18=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=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
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)
A:
PF0764510=EGF_CA=PD(0.1=0.0),PF0000822=EGF=PD(87.1=39.7),PF0000822=EGF=WD(100=45.6)
C2:
PF0000822=EGF=WD(100=58.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTTTTCCTGCTCCTGCCTC
R:
GCAAGCTTCGGATGTCACAGA
Band lengths:
306-508
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains