HsaEX0043394 @ hg38
Exon Skipping
Gene
ENSG00000134250 | NOTCH2
Description
notch 2 [Source:HGNC Symbol;Acc:HGNC:7882]
Coordinates
chr1:119949007-119950837:-
Coord C1 exon
chr1:119950724-119950837
Coord A exon
chr1:119950080-119950138
Coord C2 exon
chr1:119949007-119949126
Length
59 bp
Sequences
Splice sites
3' ss Seq
TTTTTACTTCCCACATTCAGTAC
3' ss Score
7.04
5' ss Seq
GACGTGAGT
5' ss Score
9.22
Exon sequences
Seq C1 exon
GCTATAACTGCCAGGTGAATATTGATGAATGTGCCTCAAATCCATGCCTGAACCAAGGAACCTGCTTTGATGACATAAGTGGCTACACTTGCCACTGTGTGCTGCCATACACAG
Seq A exon
TACCGCTACATCTCACTCAGAGGTGTCACCCCTTCGATGGCTGTTACAACTGAGAAGAC
Seq C2 exon
GCAAGAATTGTCAGACAGTATTGGCTCCCTGTTCCCCAAACCCTTGTGAGAATGCTGCTGTTTGCAAAGAGTCACCAAATTTTGAGAGTTATACTTGCTTGTGTGCTCCTGGCTGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134250_MULTIEX2-1/3=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
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=5.1),PF0000822=EGF=PU(90.3=71.8)
A:
NO
C2:
PF0000822=EGF=PD(6.5=4.9),PF0000822=EGF=PU(90.9=73.2)
Main Inclusion Isoform:
ENST00000256646fB4711
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCCTCAAATCCATGCCTGA
R:
CAGCAGCATTCTCACAAGGGT
Band lengths:
144-203
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development