HsaINT0159976 @ hg38
Intron Retention
Gene
ENSG00000010327 | STAB1
Description
stabilin 1 [Source:HGNC Symbol;Acc:HGNC:18628]
Coordinates
chr3:52512828-52513241:+
Coord C1 exon
chr3:52512828-52512958
Coord A exon
chr3:52512959-52513129
Coord C2 exon
chr3:52513130-52513241
Length
171 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
3' ss Seq
CCTAAACTGTGCCCTGTCAGGGC
3' ss Score
5.94
Exon sequences
Seq C1 exon
AGTGCCGGCATCACGCTTCCTGCCGACCGCCGAGTCACAGCCCTGGTGCCCTCCGAGGCTGCAGTCCGTCAGCTGAGCCCCGAGGACCGAGCTTTCTGGCTGCAGCCAAGGACGCTGCCGAACCTGGTCAG
Seq A exon
GTGGGGCCGCCATTGCCAGGCTGTGGGAGGGGCTTCCTTGAGGGACCCAGTCCCTCCCCAGCGAGTCCTCAGCCTGGCAGGCACTCACCCCTTGGGGTGGGCCCAGCCCCAAAGGTCTCTGTAAGTTACACTAACCTGATTCCATGACCCCCCTAAACTGTGCCCTGTCAG
Seq C2 exon
GGCCCATTTTCTCCAGGGTGCCCTCTTCGAGGAGGAGCTGGCCCGGCTGGGTGGGCAGGAAGTGGCCACCCTGAACCCCACCACACGCTGGGAGATTCGCAACATTAGTGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010327:ENST00000321725:29
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=FE(35.2=100)
A:
NA
C2:
PF0246917=Fasciclin=FE(30.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCCGGCATCACGCTTC
R:
CCCACTAATGTTGCGAATCTCCC
Band lengths:
242-413
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