HsaEX0053186 @ hg38
Exon Skipping
Gene
ENSG00000092871 | RFFL
Description
ring finger and FYVE like domain containing E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:HGNC:24821]
Coordinates
chr17:35016370-35021781:-
Coord C1 exon
chr17:35021371-35021781
Coord A exon
chr17:35017523-35017606
Coord C2 exon
chr17:35016370-35016580
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-'11-24,'11-23,14-24=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.397 A=1.000 C2=0.210
Domain overlap (PFAM):
C1:
PF0231811=FYVE_2=PD(69.2=32.8)
A:
NO
C2:
PF102084=Armet=PD(84.1=97.2)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
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