Special

HsaEX6091497 @ hg38

Exon Skipping

Gene
Description
strawberry notch homolog 2 [Source:HGNC Symbol;Acc:HGNC:29158]
Coordinates
chr19:1112402-1113704:-
Coord C1 exon
chr19:1113535-1113704
Coord A exon
chr19:1112818-1112949
Coord C2 exon
chr19:1112402-1112537
Length
132 bp
Sequences
Splice sites
3' ss Seq
TGTCCCTGTCTCGGCTGCAGATG
3' ss Score
10.37
5' ss Seq
AAGGTGCGG
5' ss Score
8.17
Exon sequences
Seq C1 exon
GACCCCTGTGCCTCCTGCAGAGAGACCCGCATGGCCCCGGGGTCCTGGAGCGGGTGGAGCGGCTGAAGCAGGATCTGCTGGACAAAGTGCGGCGGCTGGGCCGGGAACTGCCAGTCAACACCCTGGACGAGCTCATCGACCAGCTGGGCGGCCCCCAGCGGGTGGCGGAG
Seq A exon
ATGACCGGCAGGAAAGGCCGCGTGGTGTCCAGGCCCGACGGGACGGTGGCCTTCGAGTCGCGGGCAGAGCAGGGTCTGTCCATCGACCACGTGAACCTCAGGGAGAAGCAGCGCTTCATGAGCGGCGAGAAG
Seq C2 exon
CTCGTGGCCATCATCTCGGAGGCCTCCAGCTCGGGTGTCTCCCTCCAAGCCGACCGCCGTGTCCAGAACCAGCGGCGCCGCGTGCACATGACCTTGGAGCTGCCGTGGAGCGCCGACCGCGCCATCCAGCAGTTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064932-'60-47,'60-46,61-47
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.456 A=0.341 C2=0.174
Domain overlap (PFAM):

C1:
PF138711=Helicase_C_4=PU(6.1=29.8)
A:
PF138711=Helicase_C_4=FE(15.4=100)
C2:
PF138711=Helicase_C_4=FE(16.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCAGAGAGACCCGCATG
R:
CAGCTCCAAGGTCATGTGCAC
Band lengths:
258-390
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains