Special

HsaEX0043401 @ hg19

Exon Skipping

Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:7883]
Coordinates
chr19:15280897-15281636:-
Coord C1 exon
chr19:15281482-15281636
Coord A exon
chr19:15281142-15281364
Coord C2 exon
chr19:15280897-15280981
Length
223 bp
Sequences
Splice sites
3' ss Seq
CCTCTGCTTCCTGCTCTTAGGGG
3' ss Score
9.97
5' ss Seq
GAAGTGAGA
5' ss Score
3.22
Exon sequences
Seq C1 exon
CTCGGTAGTAATGCTGGAGATTGACAACCGGCTCTGCCTGCAGTCGCCTGAGAATGATCACTGCTTCCCCGATGCCCAGAGCGCCGCTGACTACCTGGGAGCGTTGTCAGCGGTGGAGCGCCTGGACTTCCCGTACCCACTGCGGGACGTGCGGG
Seq A exon
GGGAGCCGCTGGAGCCTCCAGAACCCAGCGTCCCGCTGCTGCCACTGCTAGTGGCGGGCGCTGTCTTGCTGCTGGTCATTCTCGTCCTGGGTGTCATGGTGGCCCGGCGCAAGCGCGAGCACAGCACCCTCTGGTTCCCTGAGGGCTTCTCACTGCACAAGGACGTGGCCTCTGGTCACAAGGGCCGGCGGGAACCCGTGGGCCAGGACGCGCTGGGCATGAA
Seq C2 exon
GAACATGGCCAAGGGTGAGAGCCTGATGGGGGAGGTGGCCACAGACTGGATGGACACAGAGTGCCCAGAGGCCAAGCGGCTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181-'27-28,'27-27,28-28
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.057 A=0.347 C2=0.552
Domain overlap (PFAM):

C1:
PF076847=NODP=FE(80.0=100)
A:
PF076847=NODP=PD(13.8=12.0)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCGGTAGTAATGCTGGAGATTGAC
R:
GGCACTCTGTGTCCATCCAGT
Band lengths:
220-443
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: ELMI002959; ELM sequence: LWFP; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development