Special

HsaEX0047261 @ hg38

Exon Skipping

Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23396]
Coordinates
chr9:128921930-128927196:+
Coord C1 exon
chr9:128921930-128922047
Coord A exon
chr9:128922283-128922356
Coord C2 exon
chr9:128927038-128927196
Length
74 bp
Sequences
Splice sites
3' ss Seq
AACTTTCTCCTCCCCACCAGGAG
3' ss Score
8.74
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
ATTGAGGCCTAGAGAGAGGCAGGCGTTCCTCAGAGTCACAGGGAATGGCGGCGCCTGGACTGGGACTCAGCCCAGCTGCTTGGCCTGACCCTCTCACAGCATAATTTCCCGGCACCTG
Seq A exon
GAGGCCGCGCTTAGAAGCCGCCCAGTGCCCTGAGCGTCTCCATGGCCTGCCTGAGCCCCTCGCAGCTCCAGAAG
Seq C2 exon
TTCCAACAGGATGGATTCCTGGTGCTGGAAGGATTCTTGTCTGCGGAAGAGTGTGTGGCCATGCAACAAAGGATTGGCGAGATAGTGGCTGAAATGGATGTTCCTCTCCACTGCCGCACAGAATTCTCCACCCAGGAAGAGGAGCAGCTTCGAGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175287_MULTIEX1-2/11=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. ATG (>10 exons))

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

C1:
NA
A:
NO
C2:
PF057218=PhyH=PU(36.6=98.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
Primers PCR
Suggestions for RT-PCR validation
F:
CGTTCCTCAGAGTCACAGGGA
R:
CGCCAATCCTTTGTTGCATGG
Band lengths:
174-248
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