Special

HsaEX0043409 @ hg38

Exon Skipping

Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:HGNC:7883]
Coordinates
chr19:15181576-15186988:-
Coord C1 exon
chr19:15186878-15186988
Coord A exon
chr19:15184906-15185019
Coord C2 exon
chr19:15181576-15181801
Length
114 bp
Sequences
Splice sites
3' ss Seq
CTCTCTTCCACCCCCAACAGGAC
3' ss Score
10.58
5' ss Seq
AAGGTATGC
5' ss Score
9.55
Exon sequences
Seq C1 exon
GTGTGAACTGCGAAGTGAACATTGACGACTGTGCCAGCAACCCCTGCACCTTTGGAGTCTGCCGTGATGGCATCAACCGCTACGACTGTGTCTGCCAACCTGGCTTCACAG
Seq A exon
GACGTCAGTGTGAACTCCTCTCCCCCTGCACCCCGAACCCCTGTGAGCATGGGGGCCGCTGCGAGTCTGCCCCTGGCCAGCTGCCTGTCTGCTCCTGCCCCCAGGGCTGGCAAG
Seq C2 exon
ACCCATGCCTGAACGGTGGCTCGTGCCAAGACGGCGTGGGCTCCTTTTCCTGCTCCTGCCTCCCTGGTTTCGCCGGCCCACGATGCGCCCGCGATGTGGATGAGTGCCTGAGCAACCCCTGCGGCCCGGGCACCTGTACCGACCACGTGGCCTCCTTCACCTGCACCTGCCCGCCAGGCTACGGAGGCTTCCACTGCGAACAGGACCTGCCCGACTGCAGCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181_MULTIEX1-3/4=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0000822=EGF=PD(6.5=5.3),PF0000822=EGF=PU(90.0=71.1)
A:
PF0000822=EGF=PD(6.5=5.1),PF0000822=EGF=WD(100=76.9),PF0000822=EGF=PU(3.4=2.6)
C2:
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)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAACCGCTACGACTGTGTCTG
R:
GGTCCTGTTCGCAGTGGAAG
Band lengths:
245-359
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