HsaINT0161392 @ hg19
Intron Retention
Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]
Coordinates
chr9:130444685-130446772:+
Coord C1 exon
chr9:130444685-130444839
Coord A exon
chr9:130444840-130446646
Coord C2 exon
chr9:130446647-130446772
Length
1807 bp
Sequences
Splice sites
5' ss Seq
TAGGTGAGT
5' ss Score
8.83
3' ss Seq
TGGCCTCTGTTCTCCCACAGGTT
3' ss Score
12.49
Exon sequences
Seq C1 exon
CGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAGTGGGAGGTGCTGATAG
Seq A exon
GTGAGTGGCCGTGCTTCCAGCGGAAGGCGCCGCCGCATCGCACCTCAACTCCATTCCACGCTTTGGTGTCGCATTCTGTCATAGACTCCCTTGACCCACAAAACTTAGTCTTTAGGTAACTGTGGACAGCAGAAGCTAGGGGCAAAGGGTTCCCTCCTTGGTCTGCCCTGCTGCATCTCTCAATGGAAGGCAGCCTCATGAGGTAGGAAGTGCCTGATCCCAGGGTCCGGCAGACTCAGGCTCAGATTCCTGCTCTGCAAACTGCAAGTGGGGGACCTTGAGCAAGTGGTTCGAGCTCTCCAACCATTTCCTTACTCAGCAAAACAGGATCAGTCATACTCATTCACAGCCTTGAACTAGGCCCAAGATGAGGTCTGTCAGTCTCCTGGCATTGGCCTCATGCCCAGGCAGGAATGGGCAGTGAATGGCAGTCAATCGCTGCCCTGTCAGGTGGAGATGGACAGACAGCTGTGAGCAGGTGCTGCCTGAAACTACTGCCTGACCGCTGGACTCTGCCCAGGGCTCCCCCAGCCACCTCCAACCACTTTCTAGGTCTGCCATGCCCTTTCTCGTATTTCCTGTTCGTTTCCCAAAAGAGAGGAAGCGACTTGTAGGAGCTAGCTTAACGCAGCAGGAGCCTTTTCTCCTTTTTCGTGCCTTTTGGGGGCTTCTATGATGTTTAGGGCTGGAAGAAGATGAACGAGCTAAGAAAAGTCTTGCTTTCTCCAGATGCCTCCCTTTTTGTCCTGTTTTGCCCTTAACAAAATGGAGGGTACCTGCCAGCCTGGGAGTCCCTCTCAACACTGTCTGGCAAGAAGCTGTCATGTTCACTACCCTGGCTGGGCTCTGTCCTCAGTGGAAACAGGCTCACGCTGAGCAAGGAGTGAGGCCAGGGCTCTTGGCCTCCTTTTGGAAGGGGGTGTGCTCTGCACAGTGGGGAATTATACTCTCCAGGGCCAAGGATGGCCTCTCAGGCCACTTACACATGAAGTGCTACAGGGAGAGGCCCTGAGCTGCCCCAGCTGGGAGGCATCGCTGACCTTCTCCCATAGGTGCCCACCACTGGTCTTAATCCCAGGCACAGTCATGATCTCGATAACAAGTGGTGGTTTTATACCTCCTATTTGGGGTGAGCAAGTCGCAGCACCCCCCCCCTCCCAAGCTATCCAAGTGAGCAGACTCCATAGACCAGTCCACATGGCTGTTTCTGGGTTTTTCAAGATGGATCTGGGGCTGTCAGCCGCCTCTCTGATAGCACAATCCAGTGGGGAGACTGTACCTCCCCACCGCAGCCCTCAAGCTTCCCGTGTCAGGTCACCAGCTCTCCACATAACTGTTTTTCCCTTCTGTTGTGTAGCCCCGGTGATAAAGCTCTCTGCTCCCTGCTTGCATATGTATTGCATGAATGTAGTGAGTAATTCTGAGCCCAAACACAGCTTTTCTGGACAGAAGCTGTCACAGCCAGGCTTTGGGTGTAAATCTTCCCCTTCATCTTTAGACCTGACTTGAGGTTCCATATATCGGGAGGTGGGAACCTGGGGGTATGCAGTTGCCCATGAAGATTCATGGAGGGGCCTCGCGCAGACAGCTGACGTCCGCTGTGTGGCCTCCCCTGCTTTGTGCATGCCAGCCTCCTTGCTACCATGTGTGTTCATGCGCGCTTGTGTGTGTGTGTATGCATGCGCACACATGTGTGTGTGTCTTGCTTTCTCATACCTCATTGGCTGCATAAAATGTAGGCCTAAGTTGGCATGTTCCTGTGACGTACCTTTGTTCAAGCAGTCAGCTGGCCTCTGTTCTCCCACAG
Seq C2 exon
GTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTGAGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854-STXBP1:NM_003165:18
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.019 A=NA C2=0.250
Domain overlap (PFAM):
C1:
PF0099518=Sec1=FE(9.4=100)
A:
NA
C2:
PF0099518=Sec1=PD(2.5=37.8)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGCTATGGGCACTGGCATAA
R:
TTTGTTTCTTTGGCTCTCACTCCA
Band lengths:
278-2085
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- 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)