Special

HsaINT0161401 @ hg19

Intron Retention

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]
Coordinates
chr9:130428445-130430466:+
Coord C1 exon
chr9:130428445-130428575
Coord A exon
chr9:130428576-130430358
Coord C2 exon
chr9:130430359-130430466
Length
1783 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
3' ss Seq
GAGTCCCGTCTCCATTCTAGGTA
3' ss Score
8.39
Exon sequences
Seq C1 exon
GGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAA
Seq A exon
GTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAG
Seq C2 exon
GTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136854-STXBP1:NM_003165:9
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.045 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0099518=Sec1=FE(7.7=100)
A:
NA
C2:
PF0099518=Sec1=FE(6.5=100),PF140711=YlbD_coat=PU(28.0=75.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGACAAGGCACGCTCCCA
R:
GACACCTCTGCGATGTGCTTG
Band lengths:
231-2014
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains