HsaEX0062736 @ hg38
Exon Skipping
Gene
ENSG00000076944 | STXBP2
Description
syntaxin binding protein 2 [Source:HGNC Symbol;Acc:HGNC:11445]
Coordinates
chr19:7640900-7642118:+
Coord C1 exon
chr19:7640900-7641003
Coord A exon
chr19:7641705-7641853
Coord C2 exon
chr19:7642034-7642118
Length
149 bp
Sequences
Splice sites
3' ss Seq
TCTGTCCCCTCCTCGCCCAGGTG
3' ss Score
10.33
5' ss Seq
CAAGTGGGG
5' ss Score
0.53
Exon sequences
Seq C1 exon
CCTGCCCCGAGCCCCTGTTCAGTGAGCTAGGCCGCTCTCGTCTGGCAAAGGTGGTGAAGACGTTGAAGGAGATTCACCTTGCCTTCCTCCCCTACGAGGCCCAG
Seq A exon
GTGTTCTCCCTCGATGCTCCCCACAGCACCTACAACCTCTACTGCCCCTTCCGGGCAGAGGAGCGCACGCGGCAGCTCGAGGTGCTGGCCCAGCAGATTGCCACGCTGTGCGCCACCCTGCAGGAGTACCCGGCCATCCGCTACCGCAA
Seq C2 exon
GGGCCCAGAGGACACAGCCCAGTTGGCCCACGCCGTCCTGGCCAAGCTGAACGCCTTCAAGGCAGACACTCCCAGTCTGGGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076944-'14-25,'14-23,17-25=AN
Average complexity
A_C3
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=0.259
Domain overlap (PFAM):
C1:
PF0099518=Sec1=PD(3.2=2.9),PF0099518=Sec1=FE(29.6=100)
A:
PF0099518=Sec1=FE(42.6=100)
C2:
PF0099518=Sec1=FE(24.3=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCGAGCCCCTGTTCAG
R:
AGACTGGGAGTGTCTGCCTTG
Band lengths:
178-327
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