Special

HsaEX0047264 @ hg19

Exon Skipping

Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:23396]
Coordinates
chr9:131689317-131698782:+
Coord C1 exon
chr9:131689317-131689475
Coord A exon
chr9:131696061-131696136
Coord C2 exon
chr9:131698727-131698782
Length
76 bp
Sequences
Splice sites
3' ss Seq
CTGATGTCCCCTTTCCACAGGGC
3' ss Score
11.55
5' ss Seq
AAGGTTTGG
5' ss Score
5.28
Exon sequences
Seq C1 exon
TTCCAACAGGATGGATTCCTGGTGCTGGAAGGATTCTTGTCTGCGGAAGAGTGTGTGGCCATGCAACAAAGGATTGGCGAGATAGTGGCTGAAATGGATGTTCCTCTCCACTGCCGCACAGAATTCTCCACCCAGGAAGAGGAGCAGCTTCGAGCCCAG
Seq A exon
GGCAGCACAGACTATTTCTTGAGCAGTGGTGACAAGATTCGATTCTTCTTTGAGAAAGGCGTTTTTGATGAGAAAG
Seq C2 exon
CTCTGCACGCCCACGACCCCGTCTTCAAGAGCATCACACACTCCTTCAAGGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175287_MULTIEX1-2/8=1-4
Average complexity
C2*
Mappability confidence:
88%=100=88%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.045 A=0.007 C2=0.000
Domain overlap (PFAM):

C1:
PF057218=PhyH=PU(36.6=98.1)
A:
PF057218=PhyH=FE(17.6=100)
C2:
PF057218=PhyH=FE(12.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTGGTGCTGGAAGGATTCT
R:
GTGATGCTCTTGAAGACGGGG
Band lengths:
180-256
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development