Special

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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
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