HsaEX0053189 @ hg19
Exon Skipping
Gene
ENSG00000092871 | RFFL
Description
ring finger and FYVE-like domain containing E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:24821]
Coordinates
chr17:33344542-33353580:-
Coord C1 exon
chr17:33353393-33353580
Coord A exon
chr17:33348390-33348800
Coord C2 exon
chr17:33344542-33344625
Length
411 bp
Sequences
Splice sites
3' ss Seq
GTGTCTTTTGCTCTAAGCAGCAG
3' ss Score
5.02
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTCCCCAACAGGCTTGGAACCAAGCTGCAAGTCCTGTGGGGCTCACTTTGCAAACACGGCCAGGAAG
Seq A exon
CAGACCTGCTTGGACTGTAAGAAAAATTTTTGCATGACCTGTTCGAGCCAAGTAGGGAATGGGCCCCGCCTCTGCCTTCTCTGCCAACGGTTTCGAGCTACAGCCTTTCAGCGAGAGGAGCTCATGAAGATGAAGGTGAAGGACTTGAGGGACTATCTCAGCCTCCATGACATCTCTACCGAAATGTGCCGGGAGAAAGAAGAGCTGGTGCTCTTGGTCCTTGGCCAGCAGCCTGTAATCTCCCAGGAGGACAGGACTCGTGCCTCCACCTTGTCCCCAGACTTTCCTGAGCAGCAGGCCTTCCTGACCCAGCCTCACTCCAGCATGGTTCCACCTACCTCACCCAACCTCCCCTCTTCATCTGCACAAGCCACCTCTGTTCCCCCAGCCCAGGTTCAGGAGAATCAGCAG
Seq C2 exon
GCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092871-'9-14,'9-12,13-14
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.100 A=0.390 C2=1.000
Domain overlap (PFAM):
C1:
PF0231811=FYVE_2=PU(28.8=31.7)
A:
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)
C2:
PF102084=Armet=PU(23.8=85.7)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACCTGCTGCAACTGGTTCTG
R:
GGGTCTCATCCTCAGCAGGTA
Band lengths:
254-665
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)