HsaEX0053188 @ 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
chr17:35021684-35026561:-
Coord C1 exon
chr17:35026374-35026561
Coord A exon
chr17:35025183-35025337
Coord C2 exon
chr17:35021684-35021784
Length
155 bp
Sequences
Splice sites
3' ss Seq
TTTTCCCTTGACTTCAGTAGTGC
3' ss Score
2.43
5' ss Seq
AAGGTGCTT
5' ss Score
4.72
Exon sequences
Seq C1 exon
ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTCCCCAACAGGCTTGGAACCAAGCTGCAAGTCCTGTGGGGCTCACTTTGCAAACACGGCCAGGAAG
Seq A exon
TGCTCAAGATCACATAGTTATTAAATGACAGAGCCGGGATTCAAACCCAGGTCCTTGATTCCAAAGCCCCTCCCAGAAGACATTCAGCATGTCGAGTAGAAGATGACAGTTACAGGCCTGGGTGCCTAGAAAAGCATGGCAATGATTAAAATAAG
Seq C2 exon
CAGCAGACCTGCTTGGACTGTAAGAAAAATTTTTGCATGACCTGTTCGAGCCAAGTAGGGAATGGGCCCCGCCTCTGCCTTCTCTGCCAACGGTTTCGAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092871-'6-19,'6-18,7-19
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
3' UTR
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.110 A=0.000 C2=NA
Domain overlap (PFAM):
C1:
PF0231811=FYVE_2=PU(27.7=30.0)
A:
NO
C2:
NA
Main Inclusion Isoform:
ENST00000415395fB5878
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
GATGGACAGCCTGAGGAGGTC
R:
TCGAAACCGTTGGCAGAGAAG
Band lengths:
246-401
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