Special

HsaEX6093550 @ hg38

Exon Skipping

Gene
ENSG00000074181 | NOTCH3
Description
notch 3 [Source:HGNC Symbol;Acc:HGNC:7883]
Coordinates
chr19:15174068-15178941:-
Coord C1 exon
chr19:15178823-15178941
Coord A exon
chr19:15177525-15178090
Coord C2 exon
chr19:15174068-15174400
Length
566 bp
Sequences
Splice sites
3' ss Seq
TCCCCAAACCCGACCCCCAGCCG
3' ss Score
3.88
5' ss Seq
CAAGTGAGC
5' ss Score
6.39
Exon sequences
Seq C1 exon
GTCCTCGCTGTCAGACTGTCCTGTCTCCCTGCGAGTCCCAGCCATGCCAGCATGGAGGCCAGTGCCGTCCTAGCCCGGGTCCTGGGGGTGGGCTGACCTTCACCTGTCACTGTGCCCAG
Seq A exon
CCGTTCTGGGGTCCGCGTTGCGAGCGGGTGGCGCGCTCCTGCCGGGAGCTGCAGTGCCCGGTGGGCGTCCCATGCCAGCAGACGCCCCGCGGGCCGCGCTGCGCCTGCCCCCCAGGGTTGTCGGGACCCTCCTGCCGCAGCTTCCCGGGGTCGCCGCCGGGGGCCAGCAACGCCAGCTGCGCGGCCGCCCCCTGTCTCCACGGGGGCTCCTGCCGCCCCGCGCCGCTCGCGCCCTTCTTCCGCTGCGCTTGCGCGCAGGGCTGGACCGGGCCGCGCTGCGAGGCGCCCGCCGCGGCACCCGAGGTCTCGGAGGAGCCGCGGTGCCCGCGCGCCGCCTGCCAGGCCAAGCGCGGGGACCAGCGCTGCGACCGCGAGTGCAACAGCCCAGGCTGCGGCTGGGACGGCGGCGACTGCTCGCTGAGCGTGGGCGACCCCTGGCGGCAATGCGAGGCGCTGCAGTGCTGGCGCCTCTTCAACAACAGCCGCTGCGACCCCGCCTGCAGCTCGCCCGCCTGCCTCTACGACAACTTCGACTGCCACGCCGGTGGCCGCGAGCGCACTTGCAA
Seq C2 exon
CCCGGTGTACGAGAAGTACTGCGCCGACCACTTTGCCGACGGCCGCTGCGACCAGGGCTGCAACACGGAGGAGTGCGGCTGGGATGGGCTGGATTGTGCCAGCGAGGTGCCGGCCCTGCTGGCCCGCGGCGTGCTGGTGCTCACAGTGCTGCTGCCGCCAGAGGAGCTACTGCGTTCCAGCGCCGACTTTCTGCAGCGGCTCAGCGCCATCCTGCGCACCTCGCTGCGCTTCCGCCTGGACGCGCACGGCCAGGCCATGGTCTTCCCTTACCACCGGCCTAGTCCTGGCTCCGAACCCCGGGCCCGTCGGGAGCTGGCCCCCGAGGTGATCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000074181-'33-39,'33-36,37-39
Average complexity
S
Mappability confidence:
92%=83=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.098
Domain overlap (PFAM):

C1:
PF0764510=EGF_CA=PD(29.4=37.5),PF0000822=EGF=PU(80.6=72.5)
A:
PF0000822=EGF=PD(13.9=2.6),PF0000822=EGF=WD(100=17.5),PF0006612=Notch=WD(100=19.6),PF0006612=Notch=WD(100=19.6),PF0006612=Notch=PU(15.0=3.2)
C2:
PF0006612=Notch=PD(82.5=29.5),PF068168=NOD=WD(100=50.9),PF076847=NODP=PU(4.6=2.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCATGGAGGCCAGTGC
R:
GGTAAGGGAAGACCATGGCCT
Band lengths:
344-910
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains