HsaEX6063113 @ hg38
Exon Skipping
Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:11444]
Coordinates
chr9:127651603-127658451:+
Coord C1 exon
chr9:127651603-127651652
Coord A exon
chr9:127653715-127653796
Coord C2 exon
chr9:127658375-127658451
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-'13-33,'13-29,16-33=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:
PF0099518=Sec1=PU(0.2=5.9)
A:
PF0099518=Sec1=PU(19.0=95.0)
C2:
PF0099518=Sec1=FE(18.4=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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