HsaEX6033188 @ hg38
Exon Skipping
Gene
ENSG00000134250 | NOTCH2
Description
notch 2 [Source:HGNC Symbol;Acc:HGNC:7882]
Coordinates
chr1:119921713-119922778:-
Coord C1 exon
chr1:119922636-119922778
Coord A exon
chr1:119922236-119922446
Coord C2 exon
chr1:119921713-119921809
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-'65-62,'65-60,68-62
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=0.169 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
Mouse
(mm9)
No conservation detected
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
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