HsaEX0053187 @ 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
chr17:35005990-35016580:-
Coord C1 exon
chr17:35016370-35016580
Coord A exon
chr17:35014740-35014763
Coord C2 exon
chr17:35005990-35012149
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-'20-27,'20-25,22-27=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.210 A=0.341 C2=0.013
Domain overlap (PFAM):
C1:
PF102084=Armet=PD(84.1=97.2)
A:
NO
C2:
PF139201=zf-C3HC4_3=WD(100=75.4)
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
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