HsaEX0057752 @ hg38
Exon Skipping
Gene
ENSG00000144040 | SFXN5
Description
sideroflexin 5 [Source:HGNC Symbol;Acc:HGNC:16073]
Coordinates
chr2:72968448-72988348:-
Coord C1 exon
chr2:72988258-72988348
Coord A exon
chr2:72971570-72971685
Coord C2 exon
chr2:72968448-72968533
Length
116 bp
Sequences
Splice sites
3' ss Seq
TGCATCCCCTCTCTCTGCAGCCA
3' ss Score
11.22
5' ss Seq
CACGTGGGT
5' ss Score
4.46
Exon sequences
Seq C1 exon
GTGGGCCTTAATGTCCTGGTTCAGAAAGCCAACAAGTTCACCCCAGCCACCCGCCTTCTCATCCAGAGGTTTGTGCCGTTCCCTGCTGTAG
Seq A exon
CCAGTGCCAATATCTGCAATGTGGTCCTGATGCGGTACGGGGAGCTGGAGGAAGGGATTGATGTCCTGGACAGCGATGGCAACCTCGTGGGCTCCTCCAAGATCGCAGCCCGACAC
Seq C2 exon
GCCCTGCTGGAGACGGCGCTGACGCGAGTGGTCCTGCCCATGCCCATCCTGGTGCTACCCCCGATCGTCATGTCCATGCTGGAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144040-'54-57,'54-56,57-57
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.205
Domain overlap (PFAM):
C1:
PF0382012=Mtc=FE(16.4=100)
A:
PF0382012=Mtc=FE(12.3=100)
C2:
PF0382012=Mtc=PD(2.7=16.7)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGGCCTTAATGTCCTGGTT
R:
TCTCCAGCATGGACATGACGA
Band lengths:
176-292
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