HsaEX0053211 @ hg19
Exon Skipping
Gene
ENSG00000131378 | RFTN1
Description
raftlin, lipid raft linker 1 [Source:HGNC Symbol;Acc:30278]
Coordinates
chr3:16475358-16555213:-
Coord C1 exon
chr3:16554949-16555213
Coord A exon
chr3:16535232-16535384
Coord C2 exon
chr3:16475358-16475544
Length
153 bp
Sequences
Splice sites
3' ss Seq
CTTTTTCCTTTGGCCAGCAGCTG
3' ss Score
4.73
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
Exon sequences
Seq C1 exon
CGTCGGGGCTGGAGCCGGAGCGCGCCGGGCGCTGGGCGCAGCGAGCGAGAGCGCGGCGGCCGCGGGCTCCGGCGAGGGACAGACGCACCGATCGCCGGAGGGACAGACACACGACCACGCGGCGCCACCGCCCACGCCTCCACCCACCGGCGCCCAAGTCCTCCCCGCGCCGCCTCCTCTGTATGGCACAAACTTTCCTCCCGGGACGGAACACGCTGCCTCAGGGAGCCCGCGACCGCGCCTTCTCCTCCGCCGGTCCCATACG
Seq A exon
CTGCTGAAATGGGTTGCGGATTGAACAAGTTAGAGAAACGTGATGAAAAACGGCCTGGGAATATTTATTCAACTTTGAAGAGGCCTCAGGTGGAAACCAAGATAGATGTGTCCTATGAATACCGCTTCCTGGAGTTCACGACTCTGAGTGCTG
Seq C2 exon
CGGAGCTCCCTGGGTCCTCAGCAGTGAGGCTGGCCTCCCTGCGTGACCTGCCCGCCCAGCTCCTGGAGCTGTACCAGCAGGGCTTCTCGCTGGCGGCCCTGCACCCCTTCGTGCAGCCCACCCATGAGCGGGAGAAGACGCCCCTGGAGCACATCTTTAGAGCCATCCTGATCAAGAAAACCGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131378_MULTIEX1-1/3=C1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.181 C2=0.018
Domain overlap (PFAM):
C1:
NA
A:
PF152501=Raftlin=PU(42.1=98.0)
C2:
PF152501=Raftlin=FE(12.8=100)
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:
CACAAACTTTCCTCCCGGGAC
R:
GCTCTAAAGATGTGCTCCAGGG
Band lengths:
242-395
Functional annotations
There are 1 annotated functions for this event
PMID: 12805216
This event
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)