HsaEX0043412 @ hg38
Exon Skipping
Gene
ENSG00000204301 | NOTCH4
Description
notch 4 [Source:HGNC Symbol;Acc:HGNC:7884]
Coordinates
chr6:32198649-32201006:-
Coord C1 exon
chr6:32200831-32201006
Coord A exon
chr6:32198926-32199145
Coord C2 exon
chr6:32198649-32198730
Length
220 bp
Sequences
Splice sites
3' ss Seq
GACTCTGTCTCTCCCACCAGCAC
3' ss Score
9.75
5' ss Seq
CAAGTGAGA
5' ss Score
5.26
Exon sequences
Seq C1 exon
GTTTGTGGTGGTCATGGGTGTGGATTTGTCCCGCTGTGGCCCTGACCACCCGGCATCCCGCTGTCCCTGGGACCCTGGGCTTCTACTCCGCTTCCTTGCTGCGATGGCTGCAGTGGGAGCCCTGGAGCCCCTGCTGCCTGGACCACTGCTGGCTGTCCACCCTCATGCAGGGACCG
Seq A exon
CACCCCCTGCCAACCAGCTTCCCTGGCCTGTGCTGTGCTCCCCAGTGGCCGGGGTGATTCTCCTGGCCCTAGGGGCTCTTCTCGTCCTCCAGCTCATCCGGCGTCGACGCCGAGAGCATGGAGCTCTCTGGCTGCCCCCTGGTTTCACTCGACGGCCTCGGACTCAGTCAGCTCCCCACCGACGCCGGCCCCCACTAGGCGAGGACAGCATTGGTCTCAA
Seq C2 exon
GGCACTGAAGCCAAAGGCAGAAGTTGATGAGGATGGAGTTGTGATGTGCTCAGGCCCTGAGGAGGGAGAGGAGGTGGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204301_MULTIEX2-5/5=4-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.150 A=0.446 C2=0.821
Domain overlap (PFAM):
C1:
PF076847=NODP=FE(90.8=100)
A:
PF076847=NODP=PD(3.1=2.7)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
GTTTGTGGTGGTCATGGGTGT
R:
CACCTCCTCTCCCTCCTCAG
Band lengths:
252-472
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: ELMI002960; ELM sequence: LWLP; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development