HsaINT0159981 @ hg38
Intron Retention
Gene
ENSG00000010327 | STAB1
Description
stabilin 1 [Source:HGNC Symbol;Acc:HGNC:18628]
Coordinates
chr3:52514115-52514496:+
Coord C1 exon
chr3:52514115-52514213
Coord A exon
chr3:52514214-52514364
Coord C2 exon
chr3:52514365-52514496
Length
151 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGG
5' ss Score
8.3
3' ss Seq
GTTCTCTCCTTCTCTTCCAGGAC
3' ss Score
12.68
Exon sequences
Seq C1 exon
CACCATGGGTTGGTGCCCCAGATTGAGGCTGCCACTGCCTACACCATCTTTGTGCCCACCAACCGCTCCCTGGAGGCCCAGGGCAACAGCAGTCACCTG
Seq A exon
GTGAGGCCGTGGGGATGGGGCAATGGCAGGGAGGGCAAAGGCATAGAGGGCGAGCCTCCAATCCCACCACGAAGGGACACAGTGGGTGTGGCGTGCTGTCCAGGGCACTTGGTTATCCTGCAGTCCCCTGGGTTCTCTCCTTCTCTTCCAG
Seq C2 exon
GACGCAGACACAGTGCGGCACCATGTGGTCCTGGGGGAGGCCCTCTCCATGGAAACCCTGCGGAAGGGTGGACACCGCAACTCCCTCCTGGGCCCTGCCCACTGGATCGTCTTCTACAACCACAGTGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010327:ENST00000321725:33
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.152 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0246917=Fasciclin=FE(28.1=100)
A:
NA
C2:
PF0246917=Fasciclin=FE(37.7=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:
GTTGGTGCCCCAGATTGAGG
R:
TGGCCACTGTGGTTGTAGAAG
Band lengths:
222-373
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