Special

HsaEX6063113 @ hg19

Exon Skipping

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]
Coordinates
chr9:130413882-130420730:+
Coord C1 exon
chr9:130413882-130413931
Coord A exon
chr9:130415994-130416075
Coord C2 exon
chr9:130420654-130420730
Length
82 bp
Sequences
Splice sites
3' ss Seq
GCTGTTCTCTTTCCTTGCAGGTG
3' ss Score
13.39
5' ss Seq
CGAGTGAGC
5' ss Score
5.16
Exon sequences
Seq C1 exon
AGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAAG
Seq A exon
GTGCTGGTGGTGGATCAGTTAAGCATGAGGATGCTGTCCTCCTGCTGCAAGATGACAGACATCATGACCGAGGGCATAACGA
Seq C2 exon
TTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854-'5-6,'5-4,6-6=AN
Average complexity
A_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(17.2=100),PF0099518=Sec1=PU(1.5=5.9)
A:
PF148471=Ras_bdg_2=FE(29.0=100),PF0099518=Sec1=FE(40.3=100)
C2:
PF148471=Ras_bdg_2=FE(26.9=100),PF0099518=Sec1=FE(37.3=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:
TGCATGATGTGATAAAGAAGGTCA
R:
CTTCTCGGATGGAGTGATGAGA
Band lengths:
121-203
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains