HsaEX0053210 @ hg38
Exon Skipping
Gene
ENSG00000131378 | RFTN1
Description
raftlin, lipid raft linker 1 [Source:HGNC Symbol;Acc:HGNC:30278]
Coordinates
chr3:16326773-16370279:-
Coord C1 exon
chr3:16370076-16370279
Coord A exon
chr3:16357932-16358047
Coord C2 exon
chr3:16326773-16326876
Length
116 bp
Sequences
Splice sites
3' ss Seq
GCCTTTTTCTTTTTCCACAGATT
3' ss Score
13.05
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
Exon sequences
Seq C1 exon
AAATGGAGATCTTCACCCTTTTCAACAAACCGAAGAGCCATCAGAAGTGCCGGCAATACTACCCTGTCACCATTCCTCTCCATGTCTCCAAGAATGGCCAGACAGTGAGCGGTTTGGACGCCAACTGGTTAGAGCACATGAGCGACCACTTCCGGAAAGGAGGCATGCTGGTGAACGCAGTCTTCTACCTTGGAATAGTGAATG
Seq A exon
ATTCCTTACATGGCTTGACAGATGGAGTATTCATCTTTGAAGCTGTTTCCACAGAAGATAGCAAAACCATACAGGGCTATGATGCTATTGTGGTTGAACAATGGACAGTCCTGGAA
Seq C2 exon
GGTGTCGAAGTGCAGACAGACTACGTGCCCCTGCTGAACTCGCTGGCGGCCTATGGCTGGCAGCTCACCTGTGTGCTACCAACTCCCGTCGTCAAGACTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131378_MULTIEX1-2/5=1-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.072 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF152501=Raftlin=FE(14.1=100)
A:
PF152501=Raftlin=FE(7.9=100)
C2:
PF152501=Raftlin=PU(35.2=96.9),PF137831=DUF4177=PU(65.2=93.8)
Main Skipping Isoform:
NA
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:
GAAGTGCCGGCAATACTACCC
R:
GGGAGTTGGTAGCACACAGGT
Band lengths:
248-364
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