Special

HsaEX0062731 @ hg19

Exon Skipping

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]
Coordinates
chr9:130420654-130423484:+
Coord C1 exon
chr9:130420654-130420730
Coord A exon
chr9:130422309-130422387
Coord C2 exon
chr9:130423381-130423484
Length
79 bp
Sequences
Splice sites
3' ss Seq
TTTTTCCCCCCCATCCACAGTCC
3' ss Score
10.28
5' ss Seq
ACTGTGAGT
5' ss Score
7.94
Exon sequences
Seq C1 exon
TTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAG
Seq A exon
TCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACT
Seq C2 exon
CTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854-'8-8,'8-7,9-8
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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF148471=Ras_bdg_2=FE(26.9=100),PF0099518=Sec1=FE(37.3=100)
A:
PF148471=Ras_bdg_2=PD(9.7=33.3),PF0099518=Sec1=PD(6.0=14.8)
C2:
PF0099518=Sec1=FE(6.1=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:
ATCAATAAGCGCAGAGAGCCG
R:
GGGATTCATACGGGAGAAATGCA
Band lengths:
168-247
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