Special

HsaEX0047268 @ hg19

Exon Skipping

Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:23396]
Coordinates
chr9:131702648-131703850:+
Coord C1 exon
chr9:131702648-131702776
Coord A exon
chr9:131702878-131702994
Coord C2 exon
chr9:131703724-131703850
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_MULTIEX1-8/8=7-C2
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=0.145 C2=0.293
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)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
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