Special

HsaEX0062728 @ hg38

Exon Skipping

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:11444]
Coordinates
chr9:127673348-127676753:+
Coord C1 exon
chr9:127673348-127673427
Coord A exon
chr9:127675804-127675887
Coord C2 exon
chr9:127676644-127676753
Length
84 bp
Sequences
Splice sites
3' ss Seq
ATGAGGTGTGTTTTCCTTAGGAC
3' ss Score
8.81
5' ss Seq
AATGTCAGC
5' ss Score
-1.38
Exon sequences
Seq C1 exon
AATCATAGGAAATAGAGACGGGAAGGCCTGCTAGATCATGCTGTCTCAACTCTGGAGCCAGTGCGGTTCCACTGTCCATG
Seq A exon
GACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAAT
Seq C2 exon
GCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854-'42-56,'42-55,43-56
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.500 A=0.085 C2=0.135
Domain overlap (PFAM):

C1:
PF0099518=Sec1=PD(0.6=40.0),PF140711=YlbD_coat=PD(2.0=40.0)
A:
PF0099518=Sec1=FE(8.3=100)
C2:
PF0099518=Sec1=FE(6.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAGGAAATAGAGACGGGAAGGCC
R:
GCCGAGGTGAGCCATGTTG
Band lengths:
167-251
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