HsaEX1025941 @ hg38
Exon Skipping
Gene
ENSG00000134250 | NOTCH2
Description
notch 2 [Source:HGNC Symbol;Acc:HGNC:7882]
Coordinates
chr1:119923637-119925810:-
Coord C1 exon
chr1:119925305-119925810
Coord A exon
chr1:119924977-119925190
Coord C2 exon
chr1:119923637-119923984
Length
214 bp
Sequences
Splice sites
3' ss Seq
AAGCTGCCTCTGCTTTTCAGATG
3' ss Score
7.51
5' ss Seq
AAGGTCTGT
5' ss Score
6.43
Exon sequences
Seq C1 exon
TCCGGGGCAAGGTGCCAGAGCAGCTGTGGACAAGTGAAATGTAGGAAGGGGGAGCAGTGTGTGCACACCGCCTCTGGACCCCGCTGCTTCTGCCCCAGTCCCCGGGACTGCGAGTCAGGCTGTGCCAGTAGCCCCTGCCAGCACGGGGGCAGCTGCCACCCTCAGCGCCAGCCTCCTTATTACTCCTGCCAGTGTGCCCCACCATTCTCGGGTAGCCGCTGTGAACTCTACACGGCACCCCCCAGCACCCCTCCTGCCACCTGTCTGAGCCAGTATTGTGCCGACAAAGCTCGGGATGGCGTCTGTGATGAGGCCTGCAACAGCCATGCCTGCCAGTGGGATGGGGGTGACTGTTCTCTCACCATGGAGAACCCCTGGGCCAACTGCTCCTCCCCACTTCCCTGCTGGGATTATATCAACAACCAGTGTGATGAGCTGTGCAACACGGTCGAGTGCCTGTTTGACAACTTTGAATGCCAGGGGAACAGCAAGACATGCAA
Seq A exon
ATGGTGCCAGCCTTGTCCCATCGCACACTGCCCTGTGCTCTCCCTTGCTGACAATGGGCCAGGAATGCTCATTGCATAATGACCCTCTCTCTCTGCCTATCTTTGCCTTCTCACCTGCTGCCTTCGTGACCTCCTGGGGGATATAACTTTTGGAAGTGGTGTTTCCCACTTCAAGCAGCCTCTCACATAACCTGCCTGCAGGATGGATGGAAAG
Seq C2 exon
GTATGACAAATACTGTGCAGACCACTTCAAAGACAACCACTGTGACCAGGGGTGCAACAGTGAGGAGTGTGGTTGGGATGGGCTGGACTGTGCTGCTGACCAACCTGAGAACCTGGCAGAAGGTACCCTGGTTATTGTGGTATTGATGCCACCTGAACAACTGCTCCAGGATGCTCGCAGCTTCTTGCGGGCACTGGGTACCCTGCTCCACACCAACCTGCGCATTAAGCGGGACTCCCAGGGGGAACTCATGGTGTACCCCTATTATGGTGAGAAGTCAGCTGCTATGAAGAAACAGAGGATGACACGCAGATCCCTTCCTGGTGAACAAGAACAGGAGGTGGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134250_CASSETTE1
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=0.108
Domain overlap (PFAM):
C1:
PF0000822=EGF=PD(14.7=3.0),PF0000822=EGF=WD(100=19.5),PF0006612=Notch=WD(100=21.9),PF0006612=Notch=WD(100=21.9),PF0006612=Notch=PU(15.8=3.6)
A:
NO
C2:
PF0006612=Notch=PD(81.6=26.5),PF068168=NOD=WD(100=48.7),PF076847=NODP=PU(4.9=2.6)
Main Inclusion Isoform:
ENST00000256646fB21286
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
GAGCCAGTATTGTGCCGACAA
R:
AACCACACTCCTCACTGTTGC
Band lengths:
308-522
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains