Special

HsaEX0056334 @ hg38

Exon Skipping

Gene
Description
strawberry notch homolog 2 [Source:HGNC Symbol;Acc:HGNC:29158]
Coordinates
chr19:1127604-1149442:-
Coord C1 exon
chr19:1149369-1149442
Coord A exon
chr19:1147309-1147420
Coord C2 exon
chr19:1127604-1127765
Length
112 bp
Sequences
Splice sites
3' ss Seq
CCCCCCCCATCTCCCTCCAGCCC
3' ss Score
10.6
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
Exon sequences
Seq C1 exon
AGCGCCATGCTGCACTGCCCCTACTGGAACACCTTCTCGCTGCCGCCATACCCTGCCTTCTCCAGCGACAGCCG
Seq A exon
CCCGTTCATGAGCTCCGCCTCCTTCCTCGGCAGCCAGCCCTGCCCAGACACCAGCTATGCCCCCGTGGCCACCGCCTCCAGCTTGCCACCAAAGACCTGCGACTTTGCTCAG
Seq C2 exon
GACTCCTCCTATTTTGAGGACTTCTCCAACATCTCCATCTTCTCCTCGTCCGTGGACTCCCTGTCGGACATCGTGGACACGCCCGACTTCCTGCCGGCTGACAGCCTCAACCAGGTGTCCACCATCTGGGACGATAACCCTGCCCCCTCCACCCACGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064932-'12-10,'12-5,14-10
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.070 C2=0.245
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCACTGCCCCTACTGGAA
R:
CTTATCGTGGGTGGAGGGGG
Band lengths:
227-339
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