HsaINT0124456 @ hg38
Intron Retention
Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23396]
Coordinates
chr9:128940599-128941571:+
Coord C1 exon
chr9:128940599-128940715
Coord A exon
chr9:128940716-128941444
Coord C2 exon
chr9:128941445-128941571
Length
729 bp
Sequences
Splice sites
5' ss Seq
GAGGTAGGC
5' ss Score
8.99
3' ss Seq
CCTGCTTGTGTCTCTGCCAGGGG
3' ss Score
9.51
Exon sequences
Seq C1 exon
GTGGTGTGTCAAGAAGGATGGTCCGGGCCCCTGTTGGCTCAGCGCCTGGTACCAGCTTCCTTGGGTCAGAGCCAGCCCGGGATAACAGCCTCTTTGTGCCCACCCCAGTGCAGAGAG
Seq A exon
GTAGGCAGATGCAGAGGGCAGAGAGGCAGGGGGCTGAGTCCATCAGTCTGTGCTTGCTCGACTACCCAGCGTCCAAGAGGTTGCCCTCGGGGTCATCTGAGGGCAGTGAAGTCACAGAAAGAGAAGGAGGGGCTGGATGGGCGCTGGGAAGTCAGGAAGCAGCATGTTTTCCTGCAGGCTGATCCAGATCACCCTGGAATCCACACTCTGCTACTTATGGGCTGTTTCTCTGGGCAAATGACTGACTCCCTGAGCCTTAATTTCCCCAAACGTAAAGTGGAAAGTCAGTGAGATGATAAATATGTTGATATAGAGTCTGCCTAGTGCATAGCCACTGCTCAACAAATGTTGGCTGTTGGGCGGCCCTTTTTCTTATGAAAAGGGAAAACCAATGTCTAACTCAGCATCACCGGAGAGGTCCCAGTGGACTGGCACAGGACAGAGGGCTTCTGCCTGATCCTGCAAAGACCTCGGGAGGGGAGGCCCTTCCTAAGGCTTGCCAAGGCCACAGTCCACAGCAGAGGGGACTTGATCCCAGAGGAACATGCATCTCAATAGCTTAGCTTTTGTCCCTGAGGGAGGCTGCAGATGCCTGAGCTTTCAGGGAAGGGAATGGGGATGGATGGGGGCCACAAAACCACTGGAAGGAGGAGGGCCCATGTCCCTTCCTGCTCTGGGGAGGGGGGATGTGGGGCTGGTAGGTTCCTGACCTGCTTGTGTCTCTGCCAG
Seq C2 exon
GGGCCCTGGTCCTCATCCATGGAGAAGTGGTACACAAGAGCAAGCAGAACCTCTCTGACCGCTCGCGCCAGGCCTACACTTTCCACCTCATGGAGGCCTCTGGCACCACCTGGAGCCCGGAGAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175287:ENST00000372592:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.164 A=NA C2=0.253
Domain overlap (PFAM):
C1:
PF057218=PhyH=FE(17.2=100)
A:
NA
C2:
PF057218=PhyH=PD(10.6=55.8)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGTCAAGAAGGATGGTCCGG
R:
CAGTTCTCCGGGCTCCAGG
Band lengths:
239-968
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