Special

HsaEX0047267 @ hg38

Exon Skipping

Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23396]
Coordinates
chr9:128937757-128940715:+
Coord C1 exon
chr9:128937757-128937778
Coord A exon
chr9:128940369-128940497
Coord C2 exon
chr9:128940599-128940715
Length
129 bp
Sequences
Splice sites
3' ss Seq
CCCCCCGTGGGCCTGCTTAGTCT
3' ss Score
3.41
5' ss Seq
CCAGTGAGG
5' ss Score
4.09
Exon sequences
Seq C1 exon
CAACCTCACTTTGGCGGTGAAG
Seq A exon
TCTCCCCTCATCAGGACGCCTCCTTCCTGTACACGGAGCCCCTGGGCCGGGTGCTGGGCGTGTGGATCGCAGTGGAGGATGCCACGCTGGAGAACGGCTGTCTCTGGTTCATCCCTGGCTCCCACACCA
Seq C2 exon
GTGGTGTGTCAAGAAGGATGGTCCGGGCCCCTGTTGGCTCAGCGCCTGGTACCAGCTTCCTTGGGTCAGAGCCAGCCCGGGATAACAGCCTCTTTGTGCCCACCCCAGTGCAGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175287-'25-39,'25-36,30-39
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.132 A=0.067 C2=0.164
Domain overlap (PFAM):

C1:
PF057218=PhyH=PD(7.5=68.8)
A:
PF057218=PhyH=PD(13.3=18.6)
C2:
PF057218=PhyH=FE(17.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACCTCACTTTGGCGGTGAAG
R:
CTCTCTGCACTGGGGTGGG
Band lengths:
138-267
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