HsaINT0161389 @ hg19
Intron Retention
Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]
Coordinates
chr9:130438923-130440811:+
Coord C1 exon
chr9:130438923-130439032
Coord A exon
chr9:130439033-130440709
Coord C2 exon
chr9:130440710-130440811
Length
1677 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGA
5' ss Score
5.46
3' ss Seq
TGGTGTGTGTGTGCATGCAGTCC
3' ss Score
6.27
Exon sequences
Seq C1 exon
GCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGAT
Seq A exon
GTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTAGCCCAGGATGGAGTGCAGTGGTGAGATTTTGGCTCGCTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGACTGGTCGTGAACTCCTGACCTCAGGTGATCTGCTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTTTTTATGACTAAAGAACAAGTTTGCTCCAGGTTCCCAAAAGGGCACATTTAGGGCTATTCCATGGAAAACCATCCCCCCACCATTACTCTTTGCCAGTGCTGCCTCTGGGTTCCTTCAGGGAATTTCCAGAGAGTAGCAGAGGTCACCTAGGGCCCAAGTGGCCCTGACTCAGGTTCTAACCTGGTGTGTGTGTGCATGCAG
Seq C2 exon
TCCACGCTGCGTCGCCGGAGCAAGCCGGAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854-STXBP1:NM_003165:15
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.135 A=NA C2=0.382
Domain overlap (PFAM):
C1:
PF0099518=Sec1=FE(6.5=100)
A:
NA
C2:
PF0099518=Sec1=FE(5.9=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:
GCATCACGGAGGAAAACCTGA
R:
GATGTCCTTGATAATCGGAGTCCAC
Band lengths:
206-1883
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)