HsaEX0062729 @ hg38
Exon Skipping
Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:11444]
Coordinates
chr9:127682406-127692716:+
Coord C1 exon
chr9:127682406-127682560
Coord A exon
chr9:127684368-127684493
Coord C2 exon
chr9:127690775-127692716
Length
126 bp
Sequences
Splice sites
3' ss Seq
TGGCCTCTGTTCTCCCACAGGTT
3' ss Score
12.49
5' ss Seq
AAAGTAAAA
5' ss Score
1.18
Exon sequences
Seq C1 exon
CGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAG
Seq A exon
GTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAA
Seq C2 exon
GATCCACACACATCCTCACCCCACAGAAACTGCTGGACACACTGAAGAAACTGAATAAAACAGATGAAGAAATAAGCAGTTAAAAAAATAAGTCGCCCCTCCAAAACACGCCCCCATCCCACAGCGCTCCGCAGCTTCCCACCACCGCCCGCCTCAGTTCCTTTGCGTCTGTTGCCTCCCCAGCCCTGCACGCCCTGGCTGGCACTGTTGCCGCTGCATTCTCGTGTTCAGTGATGCCCTCTTCTTGTTTGAAACAAAAGAAAATAATGCATTGTGTTTTTTAAAAAGAGTATCTTATACATGTATCCTAAAAAGAGAAGCTCATGTGCAATTGGTGCACAGCAGGAGAAATTTCTGGACTGTTAGGATGAATGGACGCCTTCTCCCCGTTATTTAAGATTTGTGACCTTGTACATAACCCTGGGTGACGTGCACATTGCTTGGGTATGGAACGGTAGAAATTTGGGTGTTTTTAAAACCTTGTTTGGGGTTGTTCCTGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854_MULTIEX1-1/3=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.017 A=0.250 C2=0.067
Domain overlap (PFAM):
C1:
PF0099518=Sec1=FE(53.1=100)
A:
PF0099518=Sec1=PD(2.5=37.8)
C2:
PF0099518=Sec1=PD(2.5=50.0)
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGAGCCTGAATGAGATGCG
R:
GCAACAGACGCAAAGGAACTG
Band lengths:
246-372
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