HsaINT0156818 @ hg38
Intron Retention
Gene
ENSG00000137642 | SORL1
Description
sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Coordinates
chr11:121549960-121550670:+
Coord C1 exon
chr11:121549960-121550088
Coord A exon
chr11:121550089-121550584
Coord C2 exon
chr11:121550585-121550670
Length
496 bp
Sequences
Splice sites
5' ss Seq
AGGGTATGT
5' ss Score
8.34
3' ss Seq
CTCTTGGGGTGGGGTGACAGCTA
3' ss Score
1.26
Exon sequences
Seq C1 exon
TGACTTCGGTTTCAAGATGAGTGAAGATTTGTCATTAGAGGTTTGTGTTCCAGATCCGGAATTTTCTGGAAAGTCATACTCCCCTCCTGTGCCTTGCCCTGTGGGTTCTACTTACAGGAGAACGAGAGG
Seq A exon
GTATGTATCACAGAGGTTGCCCTGTCAGGTTCTCAGCGGTCCGCACATGGAGCGAGAGAGCATAGAGGACCGTCTGGATTGCTCTACACTCGAAATTCTAGAATTCCAAGTTAACAGCCTGCAAGTAGTTTGGGCAACATTATAAATTATGGTATTTGTAAACTCTCCTACCTCCACATTGCAAGTCTGTAAGCATCCCTGAAACTCTAGGAATATCTTAAGTCATCAACTTCAGCAGGGAAACATCTTCAGAGGAATGTATTCAAGAGATATATTTAAAAATCTTGGCCAGGACAGTGCCCTAAATTGTCTGGGCCTGCCTAGTCTAATTATAAGGAGAACTGACTCAGAACTACGAACATCCTCTTTCTAGTTCTAAAGAGAAATGAGTGGATGGACTCTACTGGCCGTGGGTAGTAAGTGTATTCCCAGCTGGGATGCCTTTGTGGCTATTCTTCCATGTTTCTGACCTCTTGCTCTTGGGGTGGGGTGACAG
Seq C2 exon
CTACCGGAAGATTTCTGGGGACACTTGTAGCGGAGGAGATGTTGAAGCGCGACTGGAAGGAGAGCTGGTCCCCTGTCCCCTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000137642:ENST00000260197:15
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:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACTTCGGTTTCAAGATGAGTGA
R:
GGACCAGCTCTCCTTCCAGTC
Band lengths:
200-696
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