HsaEX0053185 @ 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
chr17:35021371-35036518:-
Coord C1 exon
chr17:35036338-35036518
Coord A exon
chr17:35026374-35026561
Coord C2 exon
chr17:35021371-35021781
Length
188 bp
Sequences
Splice sites
3' ss Seq
CCTTTCCTCCCTTGCACCAGATT
3' ss Score
7.93
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GGAAAGTGGAAGAGGAGACCCTAGCAGGCTTCAAGCAAGCTCTGTAGGACAGCAGTTAGACACTGTTTTTGAGGACTAAATTGCCAAGTCTGTCTTTTAAGAAGAGGGTGAGGGGAGTTTGGGAAGGAATGTTCAAGCCCTGAGTGAAGATCCAATAATTTTCTTTCAAGATCAGAAGGAG
Seq A exon
ATTTTATCATGTGGGCAACCTGCTGCAACTGGTTCTGCCTGGATGGACAGCCTGAGGAGGTCCCACCACCCCAGGGAGCCAGGATGCAGGCCTATTCCAACCCTGGGTACAGCTCCTTCCCTTCCCCAACAGGCTTGGAACCAAGCTGCAAGTCCTGTGGGGCTCACTTTGCAAACACGGCCAGGAAG
Seq C2 exon
CAGACCTGCTTGGACTGTAAGAAAAATTTTTGCATGACCTGTTCGAGCCAAGTAGGGAATGGGCCCCGCCTCTGCCTTCTCTGCCAACGGTTTCGAGCTACAGCCTTTCAGCGAGAGGAGCTCATGAAGATGAAGGTGAAGGACTTGAGGGACTATCTCAGCCTCCATGACATCTCTACCGAAATGTGCCGGGAGAAAGAAGAGCTGGTGCTCTTGGTCCTTGGCCAGCAGCCTGTAATCTCCCAGGAGGACAGGACTCGTGCCTCCACCTTGTCCCCAGACTTTCCTGAGCAGCAGGCCTTCCTGACCCAGCCTCACTCCAGCATGGTTCCACCTACCTCACCCAACCTCCCCTCTTCATCTGCACAAGCCACCTCTGTTCCCCCAGCCCAGGTTCAGGAGAATCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092871-'5-20,'5-16,6-20
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
Show PDB structure
Features
Disorder rate (Iupred):
C1=NA A=0.110 C2=0.397
Domain overlap (PFAM):
C1:
NA
A:
PF0231811=FYVE_2=PU(27.7=30.0)
C2:
PF0231811=FYVE_2=PD(69.2=32.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAAGCTCTGTAGGACAGCAG
R:
AAAGGCTGTAGCTCGAAACCG
Band lengths:
255-443
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