Special

HsaEX1039490 @ hg38

Exon Skipping

Gene
ENSG00000116266 | STXBP3
Description
syntaxin binding protein 3 [Source:HGNC Symbol;Acc:HGNC:11446]
Coordinates
chr1:108746688-108752306:+
Coord C1 exon
chr1:108746688-108746786
Coord A exon
chr1:108747302-108747545
Coord C2 exon
chr1:108752257-108752306
Length
244 bp
Sequences
Splice sites
3' ss Seq
AAAACCTCACTGTTTAACAGACT
3' ss Score
5.18
5' ss Seq
CAGGTTAGA
5' ss Score
5.94
Exon sequences
Seq C1 exon
AGTAGGTTGGGAGTGGAAGGTGGTGGCTGCTGCTCCGCAGTGTCGGGAAGATGGCGCCGCCGGTGGCAGAGAGGGGGCTAAAGAGCGTCGTGTGGCAGA
Seq A exon
ACTCATCTTCCCCTATTCCGAGAGGAGCCTACTTTCTGAAAAGTTCTTGAGAAGAGACCATTGGAATGACCGGTGTCCAGCCGTGACATCTTCCTGCATAGCCTGGGCAAGAGCCGCTCCTTCCGTTTTCCCTACTCTCGGGGGCCCCTCCCTGCTGTTAGGACCGGACTCCTTATTGGTTACTGATGTTCTGCGGTATCATCCACAACTTTCATAAACATCGCTCCAAACCTAGGTCTGGCAG
Seq C2 exon
AGATAAAAGCAACAGTGTTTGATGACTGCAAGAAAGAAGGCGAATGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000116266_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.020 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0099518=Sec1=PU(0.2=5.9)


Main Inclusion Isoform:
ENST00000370008fB27226


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTAGGTTGGGAGTGGAAGGT
R:
TTCCATTCGCCTTCTTTCTTGC
Band lengths:
148-392
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains