Special

HsaEX6063110 @ hg38

Exon Skipping

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:11444]
Coordinates
chr9:127661102-127665331:+
Coord C1 exon
chr9:127661102-127661205
Coord A exon
chr9:127663205-127663353
Coord C2 exon
chr9:127665247-127665331
Length
149 bp
Sequences
Splice sites
3' ss Seq
ATACTTTTTCTCCTCCCCAGGTC
3' ss Score
11.71
5' ss Seq
GGGGTAAGG
5' ss Score
8.05
Exon sequences
Seq C1 exon
CTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAG
Seq A exon
GTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGG
Seq C2 exon
GGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854-'25-45,'25-44,30-45=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.241
Domain overlap (PFAM):

C1:
PF0099518=Sec1=PD(28.0=93.3)
A:
PF0099518=Sec1=FE(14.2=100)
C2:
PF0099518=Sec1=FE(5.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTGTCCAGATGCCCTGTTTA
R:
CCCCATTGTTGGATCATCAGCT
Band lengths:
186-335
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains