Special

HsaINT0114879 @ hg19

Intron Retention

Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:7883]
Coordinates
chr19:15297689-15298149:-
Coord C1 exon
chr19:15297916-15298149
Coord A exon
chr19:15297800-15297915
Coord C2 exon
chr19:15297689-15297799
Length
116 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGA
5' ss Score
6.71
3' ss Seq
GCCATGTTCCTGGCCCCTAGGTG
3' ss Score
10.2
Exon sequences
Seq C1 exon
GCTTTGAGGGCACGCTGTGTGATCGCAACGTGGACGACTGCTCCCCTGACCCATGCCACCATGGTCGCTGCGTGGATGGCATCGCCAGCTTCTCATGTGCCTGTGCTCCTGGCTACACGGGCACACGCTGCGAGAGCCAGGTGGACGAATGCCGCAGCCAGCCCTGCCGCCATGGCGGCAAATGCCTAGACCTGGTGGACAAGTACCTCTGCCGCTGCCCTTCTGGGACCACAG
Seq A exon
GTGGGACCGGGGGCTGGGGCAGAAACAGCACACCTGGAGGGGCACAGAGGGTTTGGGAATGGTGCATCTAGTGGGGCACAGTGGTGGCCACTCCATGCCATGTTCCTGGCCCCTAG
Seq C2 exon
GTGTGAACTGCGAAGTGAACATTGACGACTGTGCCAGCAACCCCTGCACCTTTGGAGTCTGCCGTGATGGCATCAACCGCTACGACTGTGTCTGCCAACCTGGCTTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181-NOTCH3:NM_000435:11
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(16.1=6.3),PF0000822=EGF=WD(100=38.0),PF0000822=EGF=PU(90.3=35.4)
A:
NA
C2:
PF0000822=EGF=PD(6.5=5.3),PF0000822=EGF=PU(90.0=71.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTCATGTGCCTGTGCTCC
R:
GGTTGGCAGACACAGTCGTAG
Band lengths:
246-362
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