Special

HsaEX0062732 @ hg19

Exon Skipping

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]
Coordinates
chr9:130374544-130413931:+
Coord C1 exon
chr9:130374544-130374719
Coord A exon
chr9:130404748-130404842
Coord C2 exon
chr9:130413882-130413931
Length
95 bp
Sequences
Splice sites
3' ss Seq
GTTGCTGTCTTTGCTGTCAGGAA
3' ss Score
7.28
5' ss Seq
CTGGTAAAG
5' ss Score
5.75
Exon sequences
Seq C1 exon
AGTCCGCGCGTCAGTCGGTCCCTAGCGCGGCTGCGGGGCGGAGAGCTGCGGCTGGCCCAGCGCGCCCACCTGAGGAGGCGGCGGGGTCCGCAGGCGTCGCGGGACGAGGAGATCGGAGCCGGGAGACTCGCGCAGCGCCATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGA
Seq A exon
GAAAGAGGAAGACTACCTAGACATGTTGCTCCAGAGCAGAATTTCCAGCAGTAGATTGAACCTTCGGAGGCCGAGTCCCAGCCCAGTGTAAACTG
Seq C2 exon
AGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.205 A=1.000 C2=0.000
Domain overlap (PFAM):

C1:
PF148471=Ras_bdg_2=PU(6.5=46.2)
A:
NO
C2:
PF148471=Ras_bdg_2=FE(17.2=100),PF0099518=Sec1=PU(1.5=5.9)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
TCAGTCGGTCCCTAGCGC
R:
TGACCTTCTTTATCACATCATGCA
Band lengths:
196-291
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development