Special

HsaEX0062728 @ hg19

Exon Skipping

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]
Coordinates
chr9:130435460-130439032:+
Coord C1 exon
chr9:130435460-130435540
Coord A exon
chr9:130438083-130438221
Coord C2 exon
chr9:130438923-130439032
Length
139 bp
Sequences
Splice sites
3' ss Seq
ATGAGGTGTGTTTTCCTTAGGAC
3' ss Score
8.81
5' ss Seq
ATGGTAGGG
5' ss Score
5.88
Exon sequences
Seq C1 exon
TACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAG
Seq A exon
GACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATG
Seq C2 exon
GCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854-'18-20,'18-19,20-20
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.085 C2=0.135
Domain overlap (PFAM):

C1:
PF0099518=Sec1=FE(4.7=100),PF140711=YlbD_coat=FE(26.0=100)
A:
PF0099518=Sec1=FE(8.3=100),PF140711=YlbD_coat=PD(1.0=2.1)
C2:
PF0099518=Sec1=FE(6.5=100)


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:
TACTCCACCCACCTGCACC
R:
GAGGTGAGCCATGTTGGTGAT
Band lengths:
170-309
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