HsaEX0062727 @ hg38
Exon Skipping
Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:11444]
Coordinates
chr9:127672051-127675942:+
Coord C1 exon
chr9:127672051-127672116
Coord A exon
chr9:127673181-127673261
Coord C2 exon
chr9:127675804-127675942
Length
81 bp
Sequences
Splice sites
3' ss Seq
ACTGTTGTGCTTTTTCCTAGTAC
3' ss Score
7.4
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
Exon sequences
Seq C1 exon
ACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAG
Seq A exon
TACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAG
Seq C2 exon
GACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854-'40-55,'40-52,41-55
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.214 A=0.011 C2=0.085
Domain overlap (PFAM):
C1:
PF0099518=Sec1=FE(6.1=100),PF140711=YlbD_coat=FE(20.8=100)
A:
PF0099518=Sec1=FE(7.5=100),PF140711=YlbD_coat=FE(25.7=100)
C2:
PF0099518=Sec1=FE(8.3=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:
ACCTGTCCCAGATGCTGAAGA
R:
TGTAGAGAAGGATGATGCGGA
Band lengths:
177-258
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