HsaINT0160001 @ hg38
Intron Retention
Gene
ENSG00000010327 | STAB1
Description
stabilin 1 [Source:HGNC Symbol;Acc:HGNC:18628]
Coordinates
chr3:52519944-52520290:+
Coord C1 exon
chr3:52519944-52520120
Coord A exon
chr3:52520121-52520203
Coord C2 exon
chr3:52520204-52520290
Length
83 bp
Sequences
Splice sites
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
3' ss Seq
CCATGACTCCACTTGCTCAGGCC
3' ss Score
3.29
Exon sequences
Seq C1 exon
GTGGCCGGCCTCCTGCCCCTGCTTCGAGAGGCATCCCATAGGCCCTTCACAATGCTGTGGCCCACAGACGCCGCCTTTCGAGCTCTGCCTCCGGATCGCCAGGCCTGGCTGTACCATGAGGACCACCGTGACAAGCTAGCAGCCATTCTGCGGGGCCACATGATTCGCAATGTCGAG
Seq A exon
GTGGGTGCAGCCCCCAACCTTGGTCTTCACTGCCTGCAGCTCAGCCTGCCTTTCCACCTCCAACCATGACTCCACTTGCTCAG
Seq C2 exon
GCCTTGGCATCTGACCTGCCCAACCTGGGCCCACTTCGAACCATGCATGGGACCCCCATCTCTTTCTCCTGCAGCCGAACGCGGGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010327:ENST00000321725:51
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(43.9=100)
A:
NA
C2:
PF0246917=Fasciclin=FE(21.2=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:
CCCATAGGCCCTTCACAATGC
R:
CAGGTTGGGCAGGTCAGATG
Band lengths:
170-253
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains