Special

HsaINT0161388 @ hg38

Intron Retention

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:11444]
Coordinates
chr9:127675804-127676753:+
Coord C1 exon
chr9:127675804-127675942
Coord A exon
chr9:127675943-127676643
Coord C2 exon
chr9:127676644-127676753
Length
701 bp
Sequences
Splice sites
5' ss Seq
ATGGTAGGG
5' ss Score
5.88
3' ss Seq
CGGGTGTCTTGTGCCCTCAGGCA
3' ss Score
9.73
Exon sequences
Seq C1 exon
GACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATG
Seq A exon
GTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAG
Seq C2 exon
GCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854:ENST00000373302:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.085 A=NA C2=0.135
Domain overlap (PFAM):

C1:
PF0099518=Sec1=FE(8.3=100)
A:
NA
C2:
PF0099518=Sec1=FE(6.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACAGATGCTGAGGGAGAGAA
R:
GAGGTGAGCCATGTTGGTGAT
Band lengths:
214-915
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains