HsaEX6033188 @ hg19
Exon Skipping
Gene
ENSG00000134250 | NOTCH2
Description
notch 2 [Source:HGNC Symbol;Acc:7882]
Coordinates
chr1:120464336-120465401:-
Coord C1 exon
chr1:120465259-120465401
Coord A exon
chr1:120464859-120465069
Coord C2 exon
chr1:120464336-120464432
Length
211 bp
Sequences
Splice sites
3' ss Seq
CTGTCTCTGTGGACTTTCAGGTG
3' ss Score
10.45
5' ss Seq
GAAGTAAGA
5' ss Score
6.42
Exon sequences
Seq C1 exon
CTCTAAAGTCTTTCTGGAAATTGACAACCGCCAGTGTGTTCAAGACTCAGACCACTGCTTCAAGAACACGGATGCAGCAGCAGCTCTCCTGGCCTCTCACGCCATACAGGGGACCCTGTCATACCCTCTTGTGTCTGTCGTCA
Seq A exon
GTGAATCCCTGACTCCAGAACGCACTCAGCTCCTCTATCTCCTTGCTGTTGCTGTTGTCATCATTCTGTTTATTATTCTGCTGGGGGTAATCATGGCAAAACGAAAGCGTAAGCATGGCTCTCTCTGGCTGCCTGAAGGTTTCACTCTTCGCCGAGATGCAAGCAATCACAAGCGTCGTGAGCCAGTGGGACAGGATGCTGTGGGGCTGAA
Seq C2 exon
AAATCTCTCAGTGCAAGTCTCAGAAGCTAACCTAATTGGTACTGGAACAAGTGAACACTGGGTCGATGATGAAGGGCCCCAGCCAAAGAAAGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134250-'40-39,'40-38,42-39=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=0.169 C2=0.545
Domain overlap (PFAM):
C1:
PF076847=NODP=FE(78.7=100)
A:
PF076847=NODP=PD(14.8=12.7)
C2:
NO
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:
AAAGTCTTTCTGGAAATTGACAACCG
R:
CTTTACTTTCTTTGGCTGGGGC
Band lengths:
236-447
Functional annotations
There are 1 annotated functions for this event
PMID: 16530045
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: inferred by author. ELM ID: ELMI002958; ELM sequence: LWLP; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)