HsaEX0053211 @ hg38
Exon Skipping
Gene
ENSG00000131378 | RFTN1
Description
raftlin, lipid raft linker 1 [Source:HGNC Symbol;Acc:HGNC:30278]
Coordinates
chr3:16433851-16513706:-
Coord C1 exon
chr3:16513442-16513706
Coord A exon
chr3:16493721-16493877
Coord C2 exon
chr3:16433851-16434037
Length
157 bp
Sequences
Splice sites
3' ss Seq
CTTTTTCCTTTGGCCAGCAGCTG
3' ss Score
4.73
5' ss Seq
TGAGTACAT
5' ss Score
-5.06
Exon sequences
Seq C1 exon
CGTCGGGGCTGGAGCCGGAGCGCGCCGGGCGCTGGGCGCAGCGAGCGAGAGCGCGGCGGCCGCGGGCTCCGGCGAGGGACAGACGCACCGATCGCCGGAGGGACAGACACACGACCACGCGGCGCCACCGCCCACGCCTCCACCCACCGGCGCCCAAGTCCTCCCCGCGCCGCCTCCTCTGTATGGCACAAACTTTCCTCCCGGGACGGAACACGCTGCCTCAGGGAGCCCGCGACCGCGCCTTCTCCTCCGCCGGTCCCATACG
Seq A exon
CTGCTGAAATGGGTTGCGGATTGAACAAGTTAGAGAAACGTGATGAAAAACGGCCTGGGAATATTTATTCAACTTTGAAGAGGCCTCAGGTGGAAACCAAGATAGATGTGTCCTATGAATACCGCTTCCTGGAGTTCACGACTCTGAGTGCTGGTGA
Seq C2 exon
CGGAGCTCCCTGGGTCCTCAGCAGTGAGGCTGGCCTCCCTGCGTGACCTGCCCGCCCAGCTCCTGGAGCTGTACCAGCAGGGCTTCTCGCTGGCGGCCCTGCACCCCTTCGTGCAGCCCACCCATGAGCGGGAGAAGACGCCCCTGGAGCACATCTTTAGAGCCATCCTGATCAAGAAAACCGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131378_MULTIEX2-1/6=C1-4
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.181 C2=0.025
Domain overlap (PFAM):
C1:
NA
A:
PF152501=Raftlin=PU(30.8=98.0)
C2:
PF152501=Raftlin=FE(12.8=100)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACAAACTTTCCTCCCGGGAC
R:
GCTCTAAAGATGTGCTCCAGGG
Band lengths:
242-399
Functional annotations
There are 1 annotated functions for this event
PMID: 12805216
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: classical fluorescence spectroscopy, colocalization, mutation analysis, western blot. ELM ID: ELMI002323; ELM sequence: MGCGLNK; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development