Special

HsaINT0114881 @ hg38

Intron Retention

Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:HGNC:7883]
Coordinates
chr19:15185257-15185679:-
Coord C1 exon
chr19:15185487-15185679
Coord A exon
chr19:15185409-15185486
Coord C2 exon
chr19:15185257-15185408
Length
78 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
3' ss Seq
TGACTACCTTCCCCTGCCAGGTT
3' ss Score
10.52
Exon sequences
Seq C1 exon
GGCCCCTTTGTAACGTGGAGATCAATGAGTGTGCTTCCAGCCCATGCGGCGAGGGAGGTTCCTGTGTGGATGGGGAAAATGGCTTCCGCTGCCTCTGCCCGCCTGGCTCCTTGCCCCCACTCTGCCTCCCCCCGAGCCATCCCTGTGCCCATGAGCCCTGCAGTCACGGCATCTGCTATGATGCACCTGGCGG
Seq A exon
GTGAGGGCCCTTCTCAGCCTCAGACACTGCCCCCTCTCCCTGGCCCACCTCCCTGGCCTGACTACCTTCCCCTGCCAG
Seq C2 exon
GTTCCGCTGTGTGTGTGAGCCTGGCTGGAGTGGCCCCCGCTGCAGCCAGAGCCTGGCCCGAGACGCCTGTGAGTCCCAGCCGTGCAGGGCCGGTGGGACATGCAGCAGCGATGGAATGGGTTTCCACTGCACCTGCCCGCCTGGTGTCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181:ENST00000263388:13
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(6.7=3.1),PF0000822=EGF=WD(100=41.5),PF0000822=EGF=PU(53.3=24.6)
A:
NA
C2:
PF0000822=EGF=PD(43.3=25.0),PF0000822=EGF=PU(90.3=53.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTCACGGCATCTGCTATGA
R:
CAGGTGCAGTGGAAACCCATT
Band lengths:
168-246
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