HsaINT0114900 @ hg38
Intron Retention
Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:HGNC:7883]
Coordinates
chr19:15165368-15166091:-
Coord C1 exon
chr19:15165787-15166091
Coord A exon
chr19:15165516-15165786
Coord C2 exon
chr19:15165368-15165515
Length
271 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
3' ss Seq
GCATCCACTCTCTGTCCTAGATT
3' ss Score
7.47
Exon sequences
Seq C1 exon
ATGGCTTCACCCCGCTAATGCTGGCTTCCTTCTGTGGGGGGGCTCTGGAGCCAATGCCAACTGAAGAGGATGAGGCAGATGACACATCAGCTAGCATCATCTCCGACCTGATCTGCCAGGGGGCTCAGCTTGGGGCACGGACTGACCGTACTGGCGAGACTGCTTTGCACCTGGCTGCCCGTTATGCCCGTGCTGATGCAGCCAAGCGGCTGCTGGATGCTGGGGCAGACACCAATGCCCAGGACCACTCAGGCCGCACTCCCCTGCACACAGCTGTCACAGCCGATGCCCAGGGTGTCTTCCAG
Seq A exon
GTGAGATAGGCACACACTTTGGACCTCAGAGCTGGGGCAGGCATTAGACTTACCTGGGTTTGAGCCCCAGTTCTGCCTTTCAGACTCATTTTTTCTCATTTGGAAAATGGGGATATATGGGAATACAGTATCTGTCAAGCAGCTGCTCCCTGAACCTCACCAATTTCAGGGGTTGGGGTATGGGGGTTGGGGACTTCATGGGACTTAGGGGTGCTCCTGATTCCTCTGTTCCTGCCATGACCCCTCCTGCTGCATCCACTCTCTGTCCTAG
Seq C2 exon
ATTCTCATCCGAAACCGCTCTACAGACTTGGATGCCCGCATGGCAGATGGCTCAACGGCACTGATCCTGGCGGCCCGCCTGGCAGTAGAGGGCATGGTGGAAGAGCTCATCGCCAGCCATGCTGATGTCAATGCTGTGGATGAGCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181:ENST00000263388:30
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.395 A=NA C2=0.215
Domain overlap (PFAM):
C1:
PF127962=Ank_2=PU(83.5=74.5)
A:
NA
C2:
PF127962=Ank_2=PD(14.3=26.0),PF127962=Ank_2=PU(31.2=58.0)
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:
AGCCAATGCCAACTGAAGAGG
R:
GCATCCAAGTCTGTAGAGCGG
Band lengths:
292-563
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