Special

HsaINT0161399 @ hg38

Intron Retention

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:11444]
Coordinates
chr9:127663205-127665331:+
Coord C1 exon
chr9:127663205-127663353
Coord A exon
chr9:127663354-127665246
Coord C2 exon
chr9:127665247-127665331
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:ENST00000373302:7
Average complexity
IR
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=PD(66.7=96.2)
A:
NA
C2:
PF0099518=Sec1=FE(5.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
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