HsaINT0139633 @ hg38
Intron Retention
Gene
ENSG00000092871 | RFFL
Description
ring finger and FYVE like domain containing E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:HGNC:24821]
Coordinates
chr17:35016370-35017606:-
Coord C1 exon
chr17:35017523-35017606
Coord A exon
chr17:35016581-35017522
Coord C2 exon
chr17:35016370-35016580
Length
942 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
3' ss Seq
TCTCATCTTTGTCATTGCAGTCT
3' ss Score
7.79
Exon sequences
Seq C1 exon
GCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAG
Seq A exon
GTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCTCTTTCACTGGTGTTCTTCGGAACCTCTTAGCAGAGTCGAGTGGAGAGAGAATAAATGTGTGATGATAGTGCTTCCGAAATTATATTTTTGGGGTAGGGTTTAGTGTTAGTGTTCCAGGTTAACTAGTGAAGCGGTCAGTGTATTTATAAGGAGTTGTGAGGTCACAGTGGAGACGGAGAAGCCTCATGGCCCATTGTATTTCCAGTCTCTTGACTTTCTAAGAGCTGCCGGAGGGCAGGCTTGTGGTCCTGCTGTTAAAGTCTTGTTCTTTCCTTGCTTCTAGCACACTGTAGCCATTGTCAAGGGAAGGAGGTCAGACAATTAGCCAGGCAGGGCCAGTCCAGAGCACAGACCAGGGAGCTGTGGCCAAGGTTGTGTATAGAGGAGTACTTGCCAGGGAAATGTGCCTCTTGTGGGCAAGCAGAAGTCTCCAGGGGAGAAGGGCCAGCACCATGCTGGGTTTCATGTGCGGCCATATTTAACCTCTACAGGACCCCTGTGGGGTAGGACTGCTCTCTCCCCTTAATGGAGGGGCAAACGGGCTCAGAGTGGTAAGCAACTTGCTGGATATTATTTAGCATTAACAGCAGAGGAGTCAAGATTCAAAATTAGGGTCATATGACTCAAACCAGCACTCCTTCTACTATACTTCTATCTAGTACTATATCACACTGATTGGTTGGTCTGTGTCTGTTTGCTCCTGAGCACAGAATCGTGGGTCAGGAAGAGATTCTAGTATATTTTGCAATGCAGAGCACCATGCCAGGTACTCATCCTGTCTCTGTTCCTACCCTTCATGAGGTCAGTCACCAAAATTATGATGTGGTGACTGCTTTGGGGTCCTTGGAGAAAGAGCTTGGGGAGGTAAGAGCTGAGCACACTGATCTCATCTTTGTCATTGCAG
Seq C2 exon
TCTATTGACTCAGAGGACAGCTTTGTCCCAGGCCGAAGGGCCTCTCTGTCTGACCTGACTGACCTGGAGGACATTGAAGGCCTGACAGTGCGGCAGCTGAAAGAGATCTTGGCTCGCAACTTTGTCAACTACAAGGGCTGCTGTGAGAAGTGGGAGCTGATGGAGAGAGTGACCCGGCTATACAAGGATCAGAAAGGACTCCAGCACCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092871:ENST00000315249:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.210
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF102084=Armet=PD(84.1=97.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCAATGGCCATGTGTCTCAG
R:
CAGGTGCTGGAGTCCTTTCTG
Band lengths:
294-1236
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development