Special

HsaEX6091499 @ hg38

Exon Skipping

Gene
Description
strawberry notch homolog 2 [Source:HGNC Symbol;Acc:HGNC:29158]
Coordinates
chr19:1111506-1112301:-
Coord C1 exon
chr19:1112189-1112301
Coord A exon
chr19:1111996-1112067
Coord C2 exon
chr19:1111506-1111614
Length
72 bp
Sequences
Splice sites
3' ss Seq
GGCCTCCCCACCCCTGGCAGGGG
3' ss Score
6.33
5' ss Seq
AAGGTACTG
5' ss Score
8.56
Exon sequences
Seq C1 exon
GCCGCACCCACCGGTCCAACCAGGTCTCCGCGCCAGAGTATGTCTTCCTCATCTCGGAGCTGGCCGGGGAGCGCCGGTTCGCCTCCATCGTGGCCAAGCGCCTGGAGAGTCTG
Seq A exon
GGGGCCCTGACCCACGGAGACCGCCGCGCCACGGAGTCCCGTGACCTCAGCAAGTACAACTTTGAGAACAAG
Seq C2 exon
TATGGCACCCGGGCCCTGCACTGTGTCCTCACCACCATCCTGAGCCAGACTGAGAACAAAGTGCCTGTGCCCCAGGGATACCCTGGAGGGGTCCCCACCTTCTTCCGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064932-'64-51,'64-49,66-51=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.079 A=0.167 C2=0.054
Domain overlap (PFAM):

C1:
PF138711=Helicase_C_4=FE(13.3=100)
A:
PF138711=Helicase_C_4=FE(8.2=100)
C2:
PF138711=Helicase_C_4=FE(12.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCGGTCCAACCAGGTCTC
R:
GGCACAGGCACTTTGTTCTCA
Band lengths:
175-247
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains