HsaINT0114908 @ hg38
Intron Retention
Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:HGNC:7883]
Coordinates
chr19:15187881-15188348:-
Coord C1 exon
chr19:15188235-15188348
Coord A exon
chr19:15187995-15188234
Coord C2 exon
chr19:15187881-15187994
Length
240 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
3' ss Seq
CATCCCACTCCCCACCCCAGGCT
3' ss Score
6.29
Exon sequences
Seq C1 exon
GCTTCACAGGAACCTATTGCGAGGTGGACATTGACGAGTGTCAGAGTAGCCCCTGTGTCAACGGTGGGGTCTGCAAGGACCGAGTCAATGGCTTCAGCTGCACCTGCCCCTCGG
Seq A exon
GTGAGGACCTCAGGAGAGGGAGCCCGAAAAGACATGTCTGGGAAGGGGCAAAAACTCCAGGGTGGGAACCTGTAAAACCACGTTAGCGGATAACTTACAATAGAAACCATATGTTATGAAACATTGAAGTTAATTTAAATCCAAGTAAATGGGTTTTTCCACCCAAACAAGGCGGGGCTGGAGAGGGGTGTACTGCTCTCACCCTTTCTGGGCCTCTGCTCATCCCACTCCCCACCCCAG
Seq C2 exon
GCTTCAGCGGCTCCACGTGTCAGCTGGACGTGGACGAATGCGCCAGCACGCCCTGCAGGAATGGCGCCAAATGCGTGGACCAGCCCGATGGCTACGAGTGCCGCTGTGCCGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181:ENST00000263388:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=PD(18.9=17.9),PF0000822=EGF=PU(80.6=64.1)
A:
NA
C2:
PF0000822=EGF=PD(16.1=12.8),PF0000822=EGF=PU(80.6=64.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTCACAGGAACCTATTGCGA
R:
CACAGCGGCACTCGTAGC
Band lengths:
222-462
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development