HsaINT0114889 @ hg38
Intron Retention
Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:HGNC:7883]
Coordinates
chr19:15179364-15180256:-
Coord C1 exon
chr19:15180072-15180256
Coord A exon
chr19:15179497-15180071
Coord C2 exon
chr19:15179364-15179496
Length
575 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
3' ss Seq
CCTCTCTTACCCCACTGAAGTGT
3' ss Score
2.83
Exon sequences
Seq C1 exon
GGGTGCGGCTGGAGCAGCTGTGTCAGGCGGGTGGGCAGTGTGTGGATGAAGACAGCTCCCACTACTGCGTGTGCCCAGAGGGCCGTACTGGTAGCCACTGTGAGCAGGAGGTGGACCCCTGCTTGGCCCAGCCCTGCCAGCATGGGGGGACCTGCCGTGGCTATATGGGGGGCTACATGTGTGAG
Seq A exon
GTAAGGGGGCGCTCCCCAGGAGAGGGAAGAGGAGGTGGGCATGCTTGGGTGCGTCTGGGCACACATTTCTGTGTGGCTTGGTATGGGTATGTCTCTAGATATGTCTGAGTTTTTGCTTTTGTGACTCTTGGTGTATCTGTGGGTGTCACTCTGGGTAGATCTGGGGTGTTTTTTTATTTGTTTGTTTTTTTGAGACAGGTTCTCACTCTGTCACCCAGACGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTTTGCCTCCTGGGTTCAGGTGATTCTTCTGCTTCAGCCTCTCATTATAGCTGGGAGTACAGGCACCCACCACCACGCCCAGCTAATTTTTGTATTTTTCATAGTGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACCTACTGGTAGTGCGCTGAACATCTGTGTGTGTCCTTTTGTGCTGGGGTTCTTTGCGTCTTCATGGGTATGTCCAGGTGGGTCTGTGTCCCACTAAGCTGAGTGGGTCCCTCTCTTACCCCACTGAAG
Seq C2 exon
TGTCTTCCTGGCTACAATGGTGATAACTGTGAGGACGACGTGGACGAGTGTGCCTCCCAGCCCTGCCAGCACGGGGGTTCATGCATTGACCTCGTGGCCCGCTATCTCTGCTCCTGTCCCCCAGGAACGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181:ENST00000263388:20
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=0.006
Domain overlap (PFAM):
C1:
PF0000822=EGF=WD(100=48.4),PF0000822=EGF=PU(67.7=33.9)
A:
NA
C2:
PF0000822=EGF=PD(25.8=17.8),PF0000822=EGF=PU(80.0=62.2)
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:
CTGGAGCAGCTGTGTCAGG
R:
CAGCGTTCCTGGGGGACA
Band lengths:
309-884
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