Special

HsaINT0161416 @ hg38

Intron Retention

Gene
ENSG00000076944 | STXBP2
Description
syntaxin binding protein 2 [Source:HGNC Symbol;Acc:HGNC:11445]
Coordinates
chr19:7641705-7642118:+
Coord C1 exon
chr19:7641705-7641853
Coord A exon
chr19:7641854-7642033
Coord C2 exon
chr19:7642034-7642118
Length
180 bp
Sequences
Splice sites
5' ss Seq
CAAGTGGGG
5' ss Score
0.53
3' ss Seq
GTGTCTGACCTCCCCGCCAGGGG
3' ss Score
8.38
Exon sequences
Seq C1 exon
GTGTTCTCCCTCGATGCTCCCCACAGCACCTACAACCTCTACTGCCCCTTCCGGGCAGAGGAGCGCACGCGGCAGCTCGAGGTGCTGGCCCAGCAGATTGCCACGCTGTGCGCCACCCTGCAGGAGTACCCGGCCATCCGCTACCGCAA
Seq A exon
GTGGGGACCCCACCCAGCCCCACCCCGATGCCGACCCCCCCTTAACCGCGTGCAACACCTAACCTTTAACCTCTCTTGTGACCCCAGCCCCGGCCCTACCCTGGCCCCTGACTCTCACCTTCAAACCCATCCTTGACCCCATCCCCTGATGATGTCCCCCGTGTCTGACCTCCCCGCCAG
Seq C2 exon
GGGCCCAGAGGACACAGCCCAGTTGGCCCACGCCGTCCTGGCCAAGCTGAACGCCTTCAAGGCAGACACTCCCAGTCTGGGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076944:ENST00000221283:7
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=0.259
Domain overlap (PFAM):

C1:
PF0099518=Sec1=FE(42.6=100)
A:
NA
C2:
PF0099518=Sec1=FE(24.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTTCTCCCTCGATGCTCCC
R:
AGACTGGGAGTGTCTGCCTTG
Band lengths:
226-406
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