HsaEX1025939 @ hg38
Exon Skipping
Gene
ENSG00000134250 | NOTCH2
Description
notch 2 [Source:HGNC Symbol;Acc:HGNC:7882]
Coordinates
chr1:119986960-119997332:-
Coord C1 exon
chr1:119996997-119997332
Coord A exon
chr1:119996703-119996746
Coord C2 exon
chr1:119986960-119987082
Length
44 bp
Sequences
Splice sites
3' ss Seq
GTTTATTGTCCCTTTTGTAGAAA
3' ss Score
8.46
5' ss Seq
CAGGCAAGT
5' ss Score
3.1
Exon sequences
Seq C1 exon
GTAAGGAGTGCCAATGGACGGATGCCTGCCTGTCTCATCCCTGTGCAAATGGAAGTACCTGTACCACTGTGGCCAACCAGTTCTCCTGCAAATGCCTCACAGGCTTCACAGGGCAGAAATGTGAGACTGATGTCAATGAGTGTGACATTCCAGGACACTGCCAGCATGGTGGCACCTGCCTCAACCTGCCTGGTTCCTACCAGTGCCAGTGCCCTCAGGGCTTCACAGGCCAGTACTGTGACAGCCTGTATGTGCCCTGTGCACCCTCACCTTGTGTCAATGGAGGCACCTGTCGGCAGACTGGTGACTTCACTTTTGAGTGCAACTGCCTTCCAG
Seq A exon
AAACAGTGAGAAATAAGAGGAACAGAGCTCTGGGAAAGGGACAG
Seq C2 exon
GTTTTGAAGGGAGCACCTGTGAGAGGAATATTGATGACTGCCCTAACCACAGGTGTCAGAATGGAGGGGTTTGTGTGGATGGGGTCAACACTTACAACTGCCGCTGTCCCCCACAATGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134250-'9-14,'9-13,10-14
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=0.130 C2=0.007
Domain overlap (PFAM):
C1:
PF0000822=EGF=PD(3.1=0.9),PF0000822=EGF=WD(100=27.4),PF0764510=EGF_CA=WD(100=35.4),PF0000822=EGF=PU(81.2=23.0)
A:
NO
C2:
PF0000822=EGF=PD(15.6=11.9),PF0000822=EGF=PU(90.3=66.7)
Main Inclusion Isoform:
ENST00000256646fB21285
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTTGTGTCAATGGAGGCAC
R:
AACCCCTCCATTCTGACACCT
Band lengths:
139-183
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains