HsaEX6033178 @ hg38
Exon Skipping
Gene
ENSG00000134250 | NOTCH2
Description
notch 2 [Source:HGNC Symbol;Acc:HGNC:7882]
Coordinates
chr1:119940555-119948566:-
Coord C1 exon
chr1:119948414-119948566
Coord A exon
chr1:119941526-119941754
Coord C2 exon
chr1:119940555-119940756
Length
229 bp
Sequences
Splice sites
3' ss Seq
ATTCTTTTGTAATGGCTTAGATC
3' ss Score
5.19
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
GTCAGCGGTGTACCATTGACATTGACGAGTGTATCTCCAAGCCCTGCATGAACCATGGTCTCTGCCATAACACCCAGGGCAGCTACATGTGTGAATGTCCACCAGGCTTCAGTGGTATGGACTGTGAGGAGGACATTGATGACTGCCTTGCCA
Seq A exon
ATCCTTGCCAGAATGGAGGTTCCTGTATGGATGGAGTGAATACTTTCTCCTGCCTCTGCCTTCCGGGTTTCACTGGGGATAAGTGCCAGACAGACATGAATGAGTGTCTGAGTGAACCCTGTAAGAATGGAGGGACCTGCTCTGACTACGTCAACAGTTACACTTGCAAGTGCCAGGCAGGATTTGATGGAGTCCATTGTGAGAACAACATCAATGAGTGCACTGAGAG
Seq C2 exon
CTCCTGTTTCAATGGTGGCACATGTGTTGATGGGATTAACTCCTTCTCTTGCTTGTGCCCTGTGGGTTTCACTGGATCCTTCTGCCTCCATGAGATCAATGAATGCAGCTCTCATCCATGCCTGAATGAGGGAACGTGTGTTGATGGCCTGGGTACCTACCGCTGCAGCTGCCCCCTGGGCTACACTGGGAAAAACTGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134250-'45-41,'45-40,46-41
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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=PD(6.1=3.8),PF0764510=EGF_CA=WD(100=73.1),PF0000822=EGF=PU(9.7=5.8)
A:
PF0000822=EGF=PD(87.1=35.1),PF0000822=EGF=WD(100=40.3),PF0000822=EGF=PU(9.7=3.9)
C2:
PF0000822=EGF=PD(87.1=39.7),PF0000822=EGF=WD(100=45.6)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTGCATGAACCATGGTCTC
R:
TTTTTCCCAGTGTAGCCCAGG
Band lengths:
307-536
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains