HsaEX6064059 @ hg38
Exon Skipping
Gene
ENSG00000148400 | NOTCH1
Description
notch 1 [Source:HGNC Symbol;Acc:HGNC:7881]
Coordinates
chr9:136502001-136503330:-
Coord C1 exon
chr9:136503182-136503330
Coord A exon
chr9:136502272-136502488
Coord C2 exon
chr9:136502001-136502088
Length
217 bp
Sequences
Splice sites
3' ss Seq
CCTGGCCCCCGTGCCCGCAGGTG
3' ss Score
12.04
5' ss Seq
CAAGTGAGC
5' ss Score
6.39
Exon sequences
Seq C1 exon
CTCCATCGTCTACCTGGAGATTGACAACCGGCAGTGTGTGCAGGCCTCCTCGCAGTGCTTCCAGAGTGCCACCGACGTGGCCGCATTCCTGGGAGCGCTCGCCTCGCTGGGCAGCCTCAACATCCCCTACAAGATCGAGGCCGTGCAGA
Seq A exon
GTGAGACCGTGGAGCCGCCCCCGCCGGCGCAGCTGCACTTCATGTACGTGGCGGCGGCCGCCTTTGTGCTTCTGTTCTTCGTGGGCTGCGGGGTGCTGCTGTCCCGCAAGCGCCGGCGGCAGCATGGCCAGCTCTGGTTCCCTGAGGGCTTCAAAGTGTCTGAGGCCAGCAAGAAGAAGCGGCGGGAGCCCCTCGGCGAGGACTCCGTGGGCCTCAA
Seq C2 exon
GCCCCTGAAGAACGCTTCAGACGGTGCCCTCATGGACGACAACCAGAATGAGTGGGGGGACGAGGACCTGGAGACCAAGAAGTTCCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148400-'55-49,'55-48,57-49
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.039 A=0.260 C2=0.733
Domain overlap (PFAM):
C1:
PF076847=NODP=FE(79.4=100)
A:
PF076847=NODP=PD(14.3=12.3)
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:
TCCATCGTCTACCTGGAGATTGA
R:
CCGGAACTTCTTGGTCTCCAG
Band lengths:
236-453
Functional annotations
There are 2 annotated functions for this event
PMID: 16530045
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: inferred by author. ELM ID: ELMI002957; ELM sequence: LWFP; Overlap: FULL
PMID: 20028974
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, inferred by author, isothermal titration calorimetry, x-ray crystallography. ELM ID: ELMI002957; ELM sequence: LWFP; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains