Special

HsaEX0062729 @ hg19

Exon Skipping

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]
Coordinates
chr9:130444685-130454995:+
Coord C1 exon
chr9:130444685-130444839
Coord A exon
chr9:130446647-130446772
Coord C2 exon
chr9:130453054-130454995
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-'25-27,'25-26,26-27
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. Stop)

No structure available
Features
Disorder rate (Iupred):
  C1=0.019 A=0.250 C2=0.074
Domain overlap (PFAM):

C1:
PF0099518=Sec1=FE(9.4=100)
A:
PF0099518=Sec1=PD(2.5=37.8)
C2:
PF0099518=Sec1=PD(2.5=50.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
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