HsaEX0047268 @ hg38
Exon Skipping
Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23396]
Coordinates
chr9:128940369-128941571:+
Coord C1 exon
chr9:128940369-128940497
Coord A exon
chr9:128940599-128940715
Coord C2 exon
chr9:128941445-128941571
Length
117 bp
Sequences
Splice sites
3' ss Seq
CTCTCCATCTTGGCCTGCAGGTG
3' ss Score
10.54
5' ss Seq
GAGGTAGGC
5' ss Score
8.99
Exon sequences
Seq C1 exon
TCTCCCCTCATCAGGACGCCTCCTTCCTGTACACGGAGCCCCTGGGCCGGGTGCTGGGCGTGTGGATCGCAGTGGAGGATGCCACGCTGGAGAACGGCTGTCTCTGGTTCATCCCTGGCTCCCACACCA
Seq A exon
GTGGTGTGTCAAGAAGGATGGTCCGGGCCCCTGTTGGCTCAGCGCCTGGTACCAGCTTCCTTGGGTCAGAGCCAGCCCGGGATAACAGCCTCTTTGTGCCCACCCCAGTGCAGAGAG
Seq C2 exon
GGGCCCTGGTCCTCATCCATGGAGAAGTGGTACACAAGAGCAAGCAGAACCTCTCTGACCGCTCGCGCCAGGCCTACACTTTCCACCTCATGGAGGCCTCTGGCACCACCTGGAGCCCGGAGAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175287-'30-40,'30-39,32-40
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.067 A=0.164 C2=0.253
Domain overlap (PFAM):
C1:
PF057218=PhyH=PD(13.3=18.6)
A:
PF057218=PhyH=FE(17.2=100)
C2:
PF057218=PhyH=PD(10.6=55.8)
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGACGCCTCCTTCCTGTA
R:
TTCTCCGGGCTCCAGGTG
Band lengths:
242-359
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