HsaEX0053185 @ hg19
Exon Skipping
Gene
ENSG00000092871 | RFFL
Description
ring finger and FYVE-like domain containing E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:24821]
Coordinates
chr17:33348390-33416338:-
Coord C1 exon
chr17:33416124-33416338
Coord A exon
chr17:33353393-33353580
Coord C2 exon
chr17:33348390-33348800
Length
188 bp
Sequences
Splice sites
3' ss Seq
CCTTTCCTCCCTTGCACCAGATT
3' ss Score
7.93
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GGCCGGGCCGGGCCGGCTGGGGATGGGTGGGAGGGGGGGCCGACTTCCTGGGGCCGCCCGTGAGGATGTCGCGACCGCCCCCGGGTGCCCCTCAGCCCCAGAGACGCCGCCGCGGCGGAGTCCGCAGCCTCCCTGCCTGAGGCGTCCGCGGCCGGGATCCGGCCCCTCCCCTCGCCTCCTCTCCTAGGTGCCGGCCGGGAGGGCGGCCGCAGCAG
Seq A exon
ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTCCCCAACAGGCTTGGAACCAAGCTGCAAGTCCTGTGGGGCTCACTTTGCAAACACGGCCAGGAAG
Seq C2 exon
CAGACCTGCTTGGACTGTAAGAAAAATTTTTGCATGACCTGTTCGAGCCAAGTAGGGAATGGGCCCCGCCTCTGCCTTCTCTGCCAACGGTTTCGAGCTACAGCCTTTCAGCGAGAGGAGCTCATGAAGATGAAGGTGAAGGACTTGAGGGACTATCTCAGCCTCCATGACATCTCTACCGAAATGTGCCGGGAGAAAGAAGAGCTGGTGCTCTTGGTCCTTGGCCAGCAGCCTGTAATCTCCCAGGAGGACAGGACTCGTGCCTCCACCTTGTCCCCAGACTTTCCTGAGCAGCAGGCCTTCCTGACCCAGCCTCACTCCAGCATGGTTCCACCTACCTCACCCAACCTCCCCTCTTCATCTGCACAAGCCACCTCTGTTCCCCCAGCCCAGGTTCAGGAGAATCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092871-'0-12,'0-10,9-12
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
Show PDB structure
Features
Disorder rate (Iupred):
C1=NA A=0.100 C2=0.390
Domain overlap (PFAM):
C1:
NA
A:
PF0231811=FYVE_2=PU(28.8=31.7)
C2:
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)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCGCCTCCTCTCCTAGGTG
R:
GCACCAGCTCTTCTTTCTCCC
Band lengths:
256-444
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)