HsaEX0047262 @ hg38
Exon Skipping
Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23396]
Coordinates
chr9:128936448-128937778:+
Coord C1 exon
chr9:128936448-128936503
Coord A exon
chr9:128936583-128936645
Coord C2 exon
chr9:128937757-128937778
Length
63 bp
Sequences
Splice sites
3' ss Seq
TGACCTTTGCCCCCCTCCAGACC
3' ss Score
10.09
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
CTCTGCACGCCCACGACCCCGTCTTCAAGAGCATCACACACTCCTTCAAGGTGCAG
Seq A exon
ACCTTGGCCAGAAGTCTGGGCCTCCAGATGCCCGTGGTGGTGCAGAGCATGTACATCTTTAAG
Seq C2 exon
CAACCTCACTTTGGCGGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175287-'23-32,'23-30,24-32
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.132
Domain overlap (PFAM):
C1:
PF057218=PhyH=FE(12.7=100)
A:
PF057218=PhyH=FE(14.1=100)
C2:
PF057218=PhyH=PD(7.5=68.8)
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCGTCTTCAAGAGCATCAC
R:
CTTCACCGCCAAAGTGAGGTT
Band lengths:
62-125
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