HsaINT0160077 @ hg38
Intron Retention
Gene
ENSG00000136011 | STAB2
Description
stabilin 2 [Source:HGNC Symbol;Acc:HGNC:18629]
Coordinates
chr12:103748963-103750720:+
Coord C1 exon
chr12:103748963-103749156
Coord A exon
chr12:103749157-103750578
Coord C2 exon
chr12:103750579-103750720
Length
1422 bp
Sequences
Splice sites
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
3' ss Seq
TTCCCACTCTCCCTCCACAGGGC
3' ss Score
13.31
Exon sequences
Seq C1 exon
TTGTGGATTTCTGCAAACAGGACAACGGGGGCTGTGCAAAGGTGGCCAGATGCTCCCAGAAGGGCACGAAGGTCTCCTGCAGCTGCCAGAAGGGATACAAAGGGGACGGGCACAGCTGCACAGAGATAGACCCCTGTGCAGACGGCCTTAACGGAGGGTGTCACGAGCACGCCACCTGTAAGATGACAGGCCCG
Seq A exon
GTGAGTCGCTCTTTCCCAGGGAAATTTGGGAGCAGCGCCGTGGGCTTCGCTCCTCCTTGCCTTTCCACCTCCCATACTCTGCTTATCTCCTGGACTCTTCCTAAACATTTTTTCTAGCACAGTCTGTTTCTTGTTAAAAGTCATTGGGCTAAATGCAAGGTAGTCCCCTAGGCAGAAAAAGGACGTCCATGGAAAACTGGTTAAATTCTTAAGTGTATTGCTTAGTTAACAGTAATGTACCAACATTAATTTCTTAGCTCTGACTAATGTGCTATAGTTATGTTGGACATCAGGGGAAAGTGGGTAGAGAGTATAGGAGAGTTTGCTCTTTGGCCACCCTTCTATCTATCTAAAATTATCCTAAATAAAAGGCTTATTAAAACAAAAAGCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGATGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATGTCTACTAAAAAAATGCAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACACAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGTAAGATGTGGCAGGAAAAGTGCCGAAAAGATGATGCAAGATAATGTCCGTTCCTGGTTATAAAGGTGGTTCTAGAGTCAGATTGCTTTTGCATCTTACCTCCTGGACTGACAAGCTGTGTGACCTGGAGGTGGCTAATTACTCTCTGAGCCCCAGTTTTCTCATTTGTAAAGTGGGCCTCATAATAATGCAGACATCATAGAGTTGTTGTGGGGATTAAAGGAGATCATTCATTGATTCAACCAGTGGTCATTGTGCACCTACTATGTGCTCTTGCAGGTCCCAGGGTTACAACAAAAAGACAGAGTCCCTGCTTTCCTGGTGCTTGTGCACAAGTAGAGAGAGGGGGCAATGCACTGTACAGAAACAAATGCATGGAATTTTTTCAGAGAGCACAAGGAGCCCTGTGAAGAACATAAATCAGGCCAATGTGATAGAAGGGAATGGAAAAGCTACTTATGTAGGGTGGTCAGGGAGGCTGTCTCTGAGGAAGTCACATTTGAACTGAGATGTAAAGGATGAGGTTTCATCATAAGCCTGCATAAAAGCAGGACGTAGCAGTTATTCCCACTGGACAGGAAAGGCACGTTCTCTTGGTCCATCTGAACACCTCCTAGGCTGGACATTGGTCCCATGGGCACTTGGGCATCCTGGGGTCCTAGAGAAGGAACTTTTTCATCTCTTCCCACTCTCCCTCCACAG
Seq C2 exon
GGCAAGCACAAGTGTGAGTGTAAAAGTCACTATGTCGGAGATGGGCTGAACTGTGAGCCGGAGCAGCTGCCCATTGACCGCTGCTTACAGGACAATGGGCAGTGCCATGCAGACGCCAAATGTGTCGACCTCCACTTCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136011:ENST00000388887:59
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=WD(100=55.4),PF129472=EGF_3=PU(50.0=29.2)
A:
NA
C2:
PF129472=EGF_3=PD(44.7=35.4)
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:
TGTGGATTTCTGCAAACAGGACA
R:
CTGGAAGTGGAGGTCGACACA
Band lengths:
334-1756
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