HsaINT0161399 @ hg19
Intron Retention
Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]
Coordinates
chr9:130425484-130427610:+
Coord C1 exon
chr9:130425484-130425632
Coord A exon
chr9:130425633-130427525
Coord C2 exon
chr9:130427526-130427610
Length
1893 bp
Sequences
Splice sites
5' ss Seq
GGGGTAAGG
5' ss Score
8.05
3' ss Seq
TGTCACCCCTCCTTTGTCAGGGA
3' ss Score
8.39
Exon sequences
Seq C1 exon
GTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGG
Seq A exon
GTAAGGCAGTGCACCAGTCTGCTGGAGTGGCCTCCCGTGTGTCCCCCAAGTGAGGAGCTGGCCTGGACTCCTCCTCCGGCCTTAAGGTTCCTCTGACAGTTGTCTCAAGAAGATCAGGATTTGAGCATCTCTTACTTCAAATTACTCTTCCAGTGGTTTTGTTATCTTCTCAATGTTATAGTGAAATATAATAATACATGCAGAAAAAAGCATAAATCAACTATTGAATAACGAAAATGTGAACCTCTATGTAACTGCAACTCAGGCTGCCTACCGTTTTTAATTTCTTTCTAATCTTTAAAAACAAATACTATCTTTACTAAAGATGTTTCAGAGTAAGATAAAATACAAAGAGAGTAATTCTCCAAAGGACATGTTCCTCAGATTTTATCAAGCCACGCATTTCTCACTTGCTTGCTGAGTGCTGGGGGCACCTGAAGCTGAAGACCCAGCCCATGATCAGGGAGGATGGGTGGGATGTGCCTTCCAGCGTGTATGTGCATGAGAGATGCACCCCTGCAGGCTCGACCCTGCGAGATAGGACAGGCCAAGTGCTGGGGACAGCCACAGTAGGGAGAGGGCCCTTTGAGCCAAGGGTGAAGCCCGTCTGCAGACCACAGGTGACGATAGGCTCATGAGGAGAGAGAGGCCAGCATTTTGTGTGCACAGTTGGCTCTTGCATTTGGTATAAACAAAAACTTGGGAGTTGGGAAAATGTGGGGCACATTTGGGGAAGATGGGTAGTCCAGCACAGTGTATGTGTACGGCAGTGGCGTGGGATGAAGCCAATTCTGGAGGTCTTGGATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAG
Seq C2 exon
GGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854-STXBP1:NM_003165:7
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.241
Domain overlap (PFAM):
C1:
PF0099518=Sec1=FE(8.8=100)
A:
NA
C2:
PF0099518=Sec1=FE(5.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTCCTTGGACTCTGCTGACTCT
R:
CTCCCCCATTGTTGGATCATCA
Band lengths:
230-2123
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)