HsaEX0053188 @ hg19
Exon Skipping
Gene
ENSG00000092871 | RFFL
Description
ring finger and FYVE-like domain containing E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:24821]
Coordinates
chr17:33348390-33353580:-
Coord C1 exon
chr17:33353393-33353580
Coord A exon
chr17:33352202-33352359
Coord C2 exon
chr17:33348390-33348800
Length
158 bp
Sequences
Splice sites
3' ss Seq
TTCTTTTCCCTTGACTTCAGTAG
3' ss Score
5.36
5' ss Seq
AAGGTGCTT
5' ss Score
4.72
Exon sequences
Seq C1 exon
ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTCCCCAACAGGCTTGGAACCAAGCTGCAAGTCCTGTGGGGCTCACTTTGCAAACACGGCCAGGAAG
Seq A exon
TAGTGCTCAAGATCACATAGTTATTAAATGACAGAGCCGGGATTCAAACCCAGGTCCTTGATTCCAAAGCCCCTCCCAGAAGACATTCAGCATGTCGAGTAGAAGATGACAGTTACAGGCCTGGGTGCCTAGAAAAGCATGGCAATGATTAAAATAAG
Seq C2 exon
CAGACCTGCTTGGACTGTAAGAAAAATTTTTGCATGACCTGTTCGAGCCAAGTAGGGAATGGGCCCCGCCTCTGCCTTCTCTGCCAACGGTTTCGAGCTACAGCCTTTCAGCGAGAGGAGCTCATGAAGATGAAGGTGAAGGACTTGAGGGACTATCTCAGCCTCCATGACATCTCTACCGAAATGTGCCGGGAGAAAGAAGAGCTGGTGCTCTTGGTCCTTGGCCAGCAGCCTGTAATCTCCCAGGAGGACAGGACTCGTGCCTCCACCTTGTCCCCAGACTTTCCTGAGCAGCAGGCCTTCCTGACCCAGCCTCACTCCAGCATGGTTCCACCTACCTCACCCAACCTCCCCTCTTCATCTGCACAAGCCACCTCTGTTCCCCCAGCCCAGGTTCAGGAGAATCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092871-'9-12,'9-11,10-12
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.100 A=NA C2=0.390
Domain overlap (PFAM):
C1:
PF0231811=FYVE_2=PU(28.8=31.7)
A:
NO
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)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAACCAAGCTGCAAGTCCTGT
R:
TCTTTCTCCCGGCACATTTCG
Band lengths:
251-409
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- 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)