HsaINT0159971 @ hg38
Intron Retention
Gene
ENSG00000010327 | STAB1
Description
stabilin 1 [Source:HGNC Symbol;Acc:HGNC:18628]
Coordinates
chr3:52510142-52510507:+
Coord C1 exon
chr3:52510142-52510235
Coord A exon
chr3:52510236-52510348
Coord C2 exon
chr3:52510349-52510507
Length
113 bp
Sequences
Splice sites
5' ss Seq
AATGTCAGT
5' ss Score
1.93
3' ss Seq
TTTATCCATGGCTCTCACAGGCT
3' ss Score
7.08
Exon sequences
Seq C1 exon
ATGTCGCTGTCTTGATGGCTTTGAGGGTGATGGCTTCTCCTGCACACCTAGCAACCCCTGCTCCCACCCGGACCGTGGAGGCTGCTCAGAGAAT
Seq A exon
GTCAGTCCCCTTGCTCCTTCCCTGAAGTTCTGACCCAGAGGCAGGAGGTGGGATGCCCTGGCCCTCTGCCTACGTTCTTGTGTCCCTCAGTTATTTATCCATGGCTCTCACAG
Seq C2 exon
GCTGAGTGTGTCCCTGGGTCCCTGGGCACCCACCACTGCACATGCCACAAAGGCTGGAGTGGGGATGGCCGCGTCTGTGTGGCTATTGACGAGTGTGAGCTGGACATGAGAGGTGGCTGCCACACCGATGCCCTCTGCAGCTATGTGGGCCCCGGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010327:ENST00000321725:24
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:
PF129472=EGF_3=PD(43.8=43.8),PF129472=EGF_3=PU(28.9=34.4)
A:
NA
C2:
PF129472=EGF_3=PD(65.8=47.2),PF129472=EGF_3=PU(52.8=35.8)
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:
TGTCGCTGTCTTGATGGCTTT
R:
GCCCACATAGCTGCAGAGG
Band lengths:
243-356
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