Special

HsaEX0062727 @ hg19

Exon Skipping

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]
Coordinates
chr9:130434330-130438221:+
Coord C1 exon
chr9:130434330-130434395
Coord A exon
chr9:130435460-130435540
Coord C2 exon
chr9:130438083-130438221
Length
81 bp
Sequences
Splice sites
3' ss Seq
ACTGTTGTGCTTTTTCCTAGTAC
3' ss Score
7.4
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
Exon sequences
Seq C1 exon
ACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAG
Seq A exon
TACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAG
Seq C2 exon
GACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854-'17-19,'17-17,18-19
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.182 A=0.000 C2=0.085
Domain overlap (PFAM):

C1:
PF0099518=Sec1=FE(3.8=100),PF140711=YlbD_coat=FE(21.0=100)
A:
PF0099518=Sec1=FE(4.7=100),PF140711=YlbD_coat=FE(26.0=100)
C2:
PF0099518=Sec1=FE(8.3=100),PF140711=YlbD_coat=PD(1.0=2.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
ACCTGTCCCAGATGCTGAAGA
R:
TGTAGAGAAGGATGATGCGGA
Band lengths:
177-258
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