HsaINT0160048 @ hg38
Intron Retention
Gene
ENSG00000136011 | STAB2
Description
stabilin 2 [Source:HGNC Symbol;Acc:HGNC:18629]
Coordinates
chr12:103695550-103695844:+
Coord C1 exon
chr12:103695550-103695648
Coord A exon
chr12:103695649-103695736
Coord C2 exon
chr12:103695737-103695844
Length
88 bp
Sequences
Splice sites
5' ss Seq
ATTGCAAGT
5' ss Score
0.79
3' ss Seq
CTTGTCTCTTTCCATCGCAGCAA
3' ss Score
9.7
Exon sequences
Seq C1 exon
GTGCTGGTCCCACAAAGACGTCTAACTGGCTCCTTACCAAACCTGCTCATGCGGCTGGAACAGATGCCTGACTATTCCATCTTCCGGGGCTACATCATT
Seq A exon
GCAAGTACCACATTCTCTGCCTGACCACCATGCTCAGGTTACCCAGGAACAGGAATCCCTCATGCACTCTTGTCTCTTTCCATCGCAG
Seq C2 exon
CAATATAATCTGGCGAATGCAATTGAGGCTGCCGATGCCTACACAGTGTTTGCTCCAAACAACAATGCCATCGAGAATTACATCAGGGAGAAGAAAGTCTTGTCTCTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011:ENST00000388887:32
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=0.000
Domain overlap (PFAM):
C1:
PF0246917=Fasciclin=PD(2.4=9.1),PF0246917=Fasciclin=PU(8.3=30.3)
A:
NA
C2:
PF0246917=Fasciclin=FE(29.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGGTCCCACAAAGACGTC
R:
CGATGGCATTGTTGTTTGGAGC
Band lengths:
170-258
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