Special

HsaEX1039483 @ hg38

Exon Skipping

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:11444]
Coordinates
chr9:127660030-127661205:+
Coord C1 exon
chr9:127660030-127660108
Coord A exon
chr9:127660651-127660865
Coord C2 exon
chr9:127661102-127661205
Length
215 bp
Sequences
Splice sites
3' ss Seq
CCCAGAGATCTTCTCTCTAGGGA
3' ss Score
4.93
5' ss Seq
CAGGTGCCT
5' ss Score
5.4
Exon sequences
Seq C1 exon
TCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACT
Seq A exon
GGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAG
Seq C2 exon
CTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0099518=Sec1=FE(19.1=100)
A:
PF0099518=Sec1=PD(8.9=80.0)
C2:
PF0099518=Sec1=PD(28.0=93.3)


Main Inclusion Isoform:
ENST00000637173fB27221


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
TCCGTCCACTCTCTCATCAGT
R:
GGGATTCATACGGGAGAAATGCA
Band lengths:
181-396
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains