HsaINT0159997 @ hg38
Intron Retention
Gene
ENSG00000010327 | STAB1
Description
stabilin 1 [Source:HGNC Symbol;Acc:HGNC:18628]
Coordinates
chr3:52518723-52519404:+
Coord C1 exon
chr3:52518723-52518869
Coord A exon
chr3:52518870-52519263
Coord C2 exon
chr3:52519264-52519404
Length
394 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
GCCCCGTGCCCCGCCCCCAGGGC
3' ss Score
10.22
Exon sequences
Seq C1 exon
GATGAGCTGGCCCGGATTCGTGCGCATCGCCAGCTGGTGTTTCGCTACCACGTGGTTGGCTGTCGGCGGCTGCGGAGCGAGGACCTGCTGGAGCAGGGGTACGCCACGGCCCTCTCAGGGCACCCACTGCGCTTCAGCGAGAGGGAG
Seq A exon
GTGAGCCCTGGCCCTGGCCTGCCCCGCTCCATCCCGCCCCGCCCCGCCCCTGCGCGCCATTGCCCCAGGCCCCACGGCCCACGCAGTCAAGAACCCCACCTCCCCTAGCCAGGGGGCGCCTCCTGCTGAGTCCAGCCCGGGACTCCGCCCTTGACCTGGGCCTCGCCCACTGCTGTGGGCCTGTCCTGCCCAGCGCCCTTGTGTCCTTCCGAGGACTGAGCCCCGCCCCCTGCCCTGACTCCGCCCCAGACCCCGCCCACCTCGTCCTGGTCCCGAAGAACCGGGACTGCCTGCACCCTGACTTGCCCAACCCAGGTTCAACCTCCACCTCAGGCCCCGATAGCTTCCGAGCACCCCACCTATCTGCTTCATCAGCCCCGTGCCCCGCCCCCAG
Seq C2 exon
GGCAGCATATACCTCAATGACTTCGCGCGCGTGGTGAGCAGCGACCATGAGGCCGTGAACGGCATCCTGCACTTCATTGACCGTGTCCTGCTGCCCCCCGAGGCGCTGCACTGGGAGCCTGATGATGCTCCCATCCCGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000010327:ENST00000321725:48
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=0.021
Domain overlap (PFAM):
C1:
PF0246917=Fasciclin=FE(41.7=100)
A:
NA
C2:
PF0246917=Fasciclin=PD(27.0=66.0)
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:
GATGAGCTGGCCCGGATTC
R:
TCGGGATGGGAGCATCATCAG
Band lengths:
286-680
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains