HsaINT0160020 @ hg38
Intron Retention
Gene
ENSG00000010327 | STAB1
Description
stabilin 1 [Source:HGNC Symbol;Acc:HGNC:18628]
Coordinates
chr3:52502999-52503540:+
Coord C1 exon
chr3:52502999-52503109
Coord A exon
chr3:52503110-52503343
Coord C2 exon
chr3:52503344-52503540
Length
234 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
CTCTCTCTCTGCCCTGGCAGCCC
3' ss Score
9.56
Exon sequences
Seq C1 exon
AGCTGCCCGTCTGCCAGGAGCTGCGCTGTCCCCAGAACACCCAGTGCTCCGCAGAGGCTCCCAGCTGCAGGTGCCTGCCCGGCTACACACAGCAGGGCAGTGAATGCCGAG
Seq A exon
GTGAGCCTGGACTCAGAGGCCAGGGACTTCAGCTCAGGGCGGGCGGGGGCTGGGAGAGCATCCTTTAACCCAGCAAGTGCAATGTAATTCACAAGGAGGGAGAGCCATTCCTAAGGGGAGCCTATCCTCAAGGCCTAGGTCAACCTGCTGGCCCCGGCCTTCCTGGTGAAAGCTGTGGCGGAGACAGGGCTCCTGGGTGCTTGGCTCACTTGGGCTCTCTCTCTGCCCTGGCAG
Seq C2 exon
CCCCCAACCCCTGCTGGCCATCACCCTGCTCACTGCTGGCCCAGTGCTCGGTGAGCCCCAAGGGGCAGGCTCAGTGTCACTGCCCTGAGAACTACCATGGCGATGGGATGGTGTGTCTGCCCAAGGACCCATGCACTGACAACCTTGGTGGCTGCCCCAGCAACTCTACTTTGTGTGTGTACCAGAAGCCGGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010327:ENST00000321725:7
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:
PF129462=EGF_MSP1_1=WD(100=89.5)
A:
NA
C2:
PF129472=EGF_3=WD(100=51.5)
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:
CCCGTCTGCCAGGAGCTG
R:
CGGCTTCTGGTACACACACAA
Band lengths:
297-531
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains