HsaEX0053186 @ hg19
Exon Skipping
Gene
ENSG00000092871 | RFFL
Description
ring finger and FYVE-like domain containing E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:24821]
Coordinates
chr17:33343389-33348800:-
Coord C1 exon
chr17:33348390-33348800
Coord A exon
chr17:33344542-33344625
Coord C2 exon
chr17:33343389-33343599
Length
84 bp
Sequences
Splice sites
3' ss Seq
TTACTTTTCTCTTCCCACAGGCC
3' ss Score
13.21
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
Exon sequences
Seq C1 exon
CAGACCTGCTTGGACTGTAAGAAAAATTTTTGCATGACCTGTTCGAGCCAAGTAGGGAATGGGCCCCGCCTCTGCCTTCTCTGCCAACGGTTTCGAGCTACAGCCTTTCAGCGAGAGGAGCTCATGAAGATGAAGGTGAAGGACTTGAGGGACTATCTCAGCCTCCATGACATCTCTACCGAAATGTGCCGGGAGAAAGAAGAGCTGGTGCTCTTGGTCCTTGGCCAGCAGCCTGTAATCTCCCAGGAGGACAGGACTCGTGCCTCCACCTTGTCCCCAGACTTTCCTGAGCAGCAGGCCTTCCTGACCCAGCCTCACTCCAGCATGGTTCCACCTACCTCACCCAACCTCCCCTCTTCATCTGCACAAGCCACCTCTGTTCCCCCAGCCCAGGTTCAGGAGAATCAGCAG
Seq A exon
GCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAG
Seq C2 exon
TCTATTGACTCAGAGGACAGCTTTGTCCCAGGCCGAAGGGCCTCTCTGTCTGACCTGACTGACCTGGAGGACATTGAAGGCCTGACAGTGCGGCAGCTGAAAGAGATCTTGGCTCGCAACTTTGTCAACTACAAGGGCTGCTGTGAGAAGTGGGAGCTGATGGAGAGAGTGACCCGGCTATACAAGGATCAGAAAGGACTCCAGCACCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092871-'13-15,'13-14,15-15
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.390 A=1.000 C2=0.217
Domain overlap (PFAM):
C1:
PF0231811=FYVE_2=PD(68.2=32.8),PF102084=Armet=WD(100=46.7),PF0203722=SAP=WD(100=15.3),PF102084=Armet=PU(16.7=10.2)
A:
PF102084=Armet=PU(23.8=85.7)
C2:
PF102084=Armet=PD(81.0=95.8)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCAACCTCCCCTCTTCATCT
R:
AAGATCTCTTTCAGCTGCCGC
Band lengths:
179-263
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
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)