Special

HsaINT0114891 @ hg19

Intron Retention

Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:7883]
Coordinates
chr19:15289634-15290093:-
Coord C1 exon
chr19:15289836-15290093
Coord A exon
chr19:15289753-15289835
Coord C2 exon
chr19:15289634-15289752
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-NOTCH3:NM_000435:22
Average complexity
IR-S
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(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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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