HsaEX0047259 @ hg38
Exon Skipping
Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23396]
Coordinates
chr9:128936583-128940497:+
Coord C1 exon
chr9:128936583-128936645
Coord A exon
chr9:128937757-128937778
Coord C2 exon
chr9:128940369-128940497
Length
22 bp
Sequences
Splice sites
3' ss Seq
GCTTTTCCTCTCTCTTGCAGCAA
3' ss Score
11.95
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
ACCTTGGCCAGAAGTCTGGGCCTCCAGATGCCCGTGGTGGTGCAGAGCATGTACATCTTTAAG
Seq A exon
CAACCTCACTTTGGCGGTGAAG
Seq C2 exon
TCTCCCCTCATCAGGACGCCTCCTTCCTGTACACGGAGCCCCTGGGCCGGGTGCTGGGCGTGTGGATCGCAGTGGAGGATGCCACGCTGGAGAACGGCTGTCTCTGGTTCATCCCTGGCTCCCACACCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175287-'24-36,'24-32,25-36
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.132 C2=0.067
Domain overlap (PFAM):
C1:
PF057218=PhyH=FE(14.1=100)
A:
PF057218=PhyH=FE(3.1=100)
C2:
PF057218=PhyH=PD(13.3=18.6)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGGTGCAGAGCATGTACAT
R:
ATCCTCCACTGCGATCCACA
Band lengths:
108-130
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