HsaINT0160044 @ hg38
Intron Retention
Gene
ENSG00000136011 | STAB2
Description
stabilin 2 [Source:HGNC Symbol;Acc:HGNC:18629]
Coordinates
chr12:103689846-103690538:+
Coord C1 exon
chr12:103689846-103689982
Coord A exon
chr12:103689983-103690423
Coord C2 exon
chr12:103690424-103690538
Length
441 bp
Sequences
Splice sites
5' ss Seq
AAAGTAGGT
5' ss Score
6.84
3' ss Seq
TTTGTGGACTATTGTTTCAGGTA
3' ss Score
7.18
Exon sequences
Seq C1 exon
AATGCTTCTCTACAACCCACACTGTCAGCCACCTCAAACCTCACTGTCCTCGTGCCTTCCCAACAAGCTACTGAGGACATGGACCAGGATGAGAAAAGCTTCTGGTTGTCACAGAGCAATATTCCAGCCCTAATAAA
Seq A exon
GTAGGTGTTACTTATTTTATTTTACATCGTATCTGAATGGCATCTGTGTAAACATGTCTTTGAAGTTCAATGTAGGAAAACCACATGGTCCTTCAAATTCGTGGAGCTGAACATGTTCTAGGATTCTCCTTTCCTCCCACCCCAGGATAGTAATAGTCAACAATTGCTGACAGCCAACTCTGCCAAGCACTCTTTTACATATAACCCAGTTAATTCTCTCAACAACCCTATGATAGATATTGTAATGATTCCCATTTTACAGATATGGAAACCAAAGCACAGCGTGGTTGAGTAACTAACTCTAGCCAAGGCTGGTAACTGCAGGGGGAACTTGAATTTTGACTATGGCAATCTGGCTCCAGAGCCTATTCTCTTAACTATTCAATGATACAGCCCCATACATTTATATTGAATTATAGCCTTTGTGGACTATTGTTTCAG
Seq C2 exon
GTACCATATGCTACTAGGCACATACAGAGTGGCAGATCTGCAGACCCTGTCTTCTTCTGACATGTTGGCAACATCTTTGCAGGGCAACTTCCTTCACTTGGCAAAGGTGGATGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011:ENST00000388887:29
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.087 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0246917=Fasciclin=FE(36.0=100)
A:
NA
C2:
PF0246917=Fasciclin=FE(30.4=100)
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:
GCTTCTCTACAACCCACACTGT
R:
CCATCCACCTTTGCCAAGTGA
Band lengths:
248-689
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains