HsaEX0053187 @ hg19
Exon Skipping
Gene
ENSG00000092871 | RFFL
Description
ring finger and FYVE-like domain containing E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:24821]
Coordinates
chr17:33333009-33343599:-
Coord C1 exon
chr17:33343389-33343599
Coord A exon
chr17:33341759-33341782
Coord C2 exon
chr17:33333009-33339168
Length
24 bp
Sequences
Splice sites
3' ss Seq
TCCTTCTCTTTCCTTTTCAGTCA
3' ss Score
11.64
5' ss Seq
ACGGTATGT
5' ss Score
9.94
Exon sequences
Seq C1 exon
TCTATTGACTCAGAGGACAGCTTTGTCCCAGGCCGAAGGGCCTCTCTGTCTGACCTGACTGACCTGGAGGACATTGAAGGCCTGACAGTGCGGCAGCTGAAAGAGATCTTGGCTCGCAACTTTGTCAACTACAAGGGCTGCTGTGAGAAGTGGGAGCTGATGGAGAGAGTGACCCGGCTATACAAGGATCAGAAAGGACTCCAGCACCTGG
Seq A exon
TCAGTGGTGCCGAAGACCAAAACG
Seq C2 exon
GGGGAGCAGTACCATCAGGCTTGGAGGAGAACCTGTGTAAGATCTGCATGGACTCACCCATTGACTGTGTTCTTCTGGAGTGTGGCCACATGGTAACCTGTACCAAGTGTGGCAAGCGCATGAATGAATGTCCCATCTGCCGGCAGTATGTAATCCGAGCTGTGCATGTCTTCCGGTCCTGAGAGCTTGCATCGGTTTCTTCAGTGCCTTACAGGGAAATAGCCTGGGGTGTCTGGGCTCAGGGTTGGCCAGCTTGCAGAGGAGCAAGCTAGTAGAAATATTGCAGGGTTCCCAAAACCAGGTCAAGCAAGATGCCATGTCACCCCTGAGCATGCCTGTCTTCCCAGGGGTGTACCTCTTGGCTGGCAAAGCCCAAGGCCAGTGGGAACTTGTATAAATCACATGGGTATGTTCTTGGTTCAGTGATCTTGGAGTGATGATGGTAACTGATGAACAGAGAACTTTCCAGAACTTGGGTCCTGTCTTCCTCCCTGAACCTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092871-'17-17,'17-16,18-17
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.217 A=0.333 C2=0.011
Domain overlap (PFAM):
C1:
PF102084=Armet=PD(81.0=95.8)
A:
PF102084=Armet=PD(5.0=55.6)
C2:
PF139201=zf-C3HC4_3=WD(100=75.4)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTGATGGAGAGAGTGACCC
R:
TGGGTGAGTCCATGCAGATCT
Band lengths:
117-141
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)