HsaINT0114880 @ hg38
Intron Retention
Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:HGNC:7883]
Coordinates
chr19:15185487-15186988:-
Coord C1 exon
chr19:15186878-15186988
Coord A exon
chr19:15185680-15186877
Coord C2 exon
chr19:15185487-15185679
Length
1198 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
3' ss Seq
ATTGCTTGTGTACTCCCCAGGGC
3' ss Score
8.12
Exon sequences
Seq C1 exon
GTGTGAACTGCGAAGTGAACATTGACGACTGTGCCAGCAACCCCTGCACCTTTGGAGTCTGCCGTGATGGCATCAACCGCTACGACTGTGTCTGCCAACCTGGCTTCACAG
Seq A exon
GTGGGCAAGTGGCTGCCATGAGAGGGGGTCCTTAGATCGAGGGTGAAGTCACTCGTCTCTGTGGGCCTGTTTTGCCCGTATCTTTGCAGACTCTTGTCCAACGAGGTTGTCCGTGCTTTGCCCTGAGTCTGTGCTGTCTCATTGGCATAAGGTTGTTTCGAGATTATTCTGCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCGCTCTGGGAGGCCAAGGCAAGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCGTGGCCAACGTTGCGAAGCCCCATCTCTACTAAAAATACAAAAATTAGTCGGGTGTGGTGGTGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCTCAGGAGGCGGAGGCGGCAGTGAGCCAAGATTGTGCCACTGTACTCCAGTCTGGGCGACAGAGTGAGACTTCATTTCAAACACACACACACACACACACACACACACACACACACACACATACAAAAACAAACAAAAAGATTATTCTGGAACATAGATGAAAGTGTCCAAACTCAGTGACTAGGTTATTTCTGAATGGGTCTAAACTAATCCTTAGTGGAAATGAATGTGACTTTGCTAGGTGTGTTGGCTCATGTCTGTAATCCCCCAGCACTTTGGGAGGCTGAGACATGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAACATAATGAAACCCTGTCTCTACAAAAAATAAACACACTCCCAAAGCCAGATTAGTCAATACGTAGATAAACACGCACACACATGCACACACAATTAGCCAGACGTGGTGGTGCGCAACTGTAGTCCCAGCCACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAGCCCAGGAAGTGGAGGCTGTGGTGAGCTATGATCATGCCACTGCAGTCCAGCCCGGGCGACAGAGTGAGACCCCATCTCAAAAAATAAGAAGAAGAAGAAAAGAAAAAGAAAGGGACTTCATGGAAGTTTGGGGACCAGAATGATCTGGGGCAAGTCAGCTCTTGGTTGAGGAGGCGGGTGTCCTAATCTGCACAAGAGCTGATGCGTTATGAAAAAGAGGTCATTGCTCGGGGGTGTGGGTGTGCTAAGTGGGGTCACGTCGTCCCTCCCTGGTTGTCCCTGCTGACTTTGTTCTGAGATGAGATTGCTTGTGTACTCCCCAG
Seq C2 exon
GGCCCCTTTGTAACGTGGAGATCAATGAGTGTGCTTCCAGCCCATGCGGCGAGGGAGGTTCCTGTGTGGATGGGGAAAATGGCTTCCGCTGCCTCTGCCCGCCTGGCTCCTTGCCCCCACTCTGCCTCCCCCCGAGCCATCCCTGTGCCCATGAGCCCTGCAGTCACGGCATCTGCTATGATGCACCTGGCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181:ENST00000263388:12
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:
PF0000822=EGF=PD(6.5=5.3),PF0000822=EGF=PU(90.0=71.1)
A:
NA
C2:
PF0000822=EGF=PD(6.7=3.1),PF0000822=EGF=WD(100=41.5),PF0000822=EGF=PU(53.3=24.6)
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:
GTGTGAACTGCGAAGTGAACA
R:
GCCAGGTGCATCATAGCAGAT
Band lengths:
302-1500
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development