HsaINT0114891 @ hg38
Intron Retention
Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:HGNC:7883]
Coordinates
chr19:15178823-15179282:-
Coord C1 exon
chr19:15179025-15179282
Coord A exon
chr19:15178942-15179024
Coord C2 exon
chr19:15178823-15178941
Length
83 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
3' ss Seq
ACATGCTCCCGCTCGCTCAGGTC
3' ss Score
7.16
Exon sequences
Seq C1 exon
GGGTGCTCTGCGAGATTAATGAGGATGACTGCGGCCCAGGCCCACCGCTGGACTCAGGGCCCCGGTGCCTACACAATGGCACCTGCGTGGACCTGGTGGGTGGTTTCCGCTGCACCTGTCCCCCAGGATACACTGGTTTGCGCTGCGAGGCAGACATCAATGAGTGTCGCTCAGGTGCCTGCCACGCGGCACACACCCGGGACTGCCTGCAGGACCCAGGCGGAGGTTTCCGTTGCCTTTGTCATGCTGGCTTCTCAG
Seq A exon
GTAAGCGTTGGCGAAGGGGCTGGCCTGGGACCCCGCCTGTCATTCCCCCATTGTGGCTGATCTACATGCTCCCGCTCGCTCAG
Seq C2 exon
GTCCTCGCTGTCAGACTGTCCTGTCTCCCTGCGAGTCCCAGCCATGCCAGCATGGAGGCCAGTGCCGTCCTAGCCCGGGTCCTGGGGGTGGGCTGACCTTCACCTGTCACTGTGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181:ENST00000263388:22
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.035 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=PD(17.1=6.9),PF0000822=EGF=WD(100=43.7),PF0764510=EGF_CA=PU(68.6=40.2)
A:
NA
C2:
PF0764510=EGF_CA=PD(29.4=37.5),PF0000822=EGF=PU(80.6=72.5)
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:
AGGATACACTGGTTTGCGCTG
R:
GACTCGCAGGGAGACAGGAC
Band lengths:
171-254
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