Special

HsaINT0161392 @ hg38

Intron Retention

Gene
ENSG00000136854 | STXBP1
Description
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:11444]
Coordinates
chr9:127682406-127684493:+
Coord C1 exon
chr9:127682406-127682560
Coord A exon
chr9:127682561-127684367
Coord C2 exon
chr9:127684368-127684493
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:ENST00000373302:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.017 A=NA C2=0.250
Domain overlap (PFAM):

C1:
PF0099518=Sec1=FE(53.1=100)
A:
NA
C2:
PF0099518=Sec1=PD(14.3=37.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
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