HsaINT0124457 @ hg38
Intron Retention
Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23396]
Coordinates
chr9:128941445-128942037:+
Coord C1 exon
chr9:128941445-128941571
Coord A exon
chr9:128941572-128941667
Coord C2 exon
chr9:128941668-128942037
Length
96 bp
Sequences
Splice sites
5' ss Seq
CTGGTAGGT
5' ss Score
8.37
3' ss Seq
TTCTCCTCTATCCTCTGCAGGCT
3' ss Score
10.28
Exon sequences
Seq C1 exon
GGGCCCTGGTCCTCATCCATGGAGAAGTGGTACACAAGAGCAAGCAGAACCTCTCTGACCGCTCGCGCCAGGCCTACACTTTCCACCTCATGGAGGCCTCTGGCACCACCTGGAGCCCGGAGAACTG
Seq A exon
GTAGGTGACAGGGTGGGTGTGTGTGCCCGACAGTCCCCTGGAGGCTGGGAACAGTGACCCTGCACCTCAAGGTTGTTTCTCCTCTATCCTCTGCAG
Seq C2 exon
GCTCCAGCCAACAGCTGAACTGCCCTTTCCCCAACTGTACACCTAAAGGCTCTCGCAGGGCAGGAGCCCTCGCCCCTCCCGGGTGAAGCTGTGGGCTGTAAACACCAGTGCCTTGCTCAGCCTCCTGGTTGCAACAGGGAGGTCTTGTCTCCCCTCCTGGGCTTTCCTCCTGCCCTGTGGGCAGCAGCCTAGGCTGGGTCAGGGGCTTCCCTAAGATCTTCACCTCTCTGCCTCCCTACTGCCCCAACATAGCCTTGAGGAGGCTTCTCAGCCACCAAAGGGTTCTGGCCCCTTCTCACTCTCCTCTCCTCTCAGATGGAACTCTGGTTATTATGGTGTTAGTTATCGAATAAAAACGACTTCAGAATGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175287:ENST00000372592:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.253 A=NA C2=0.420
Domain overlap (PFAM):
C1:
PF057218=PhyH=PD(10.6=55.8)
A:
NA
C2:
NO
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:
AGGCCTACACTTTCCACCTCA
R:
AAGGCACTGGTGTTTACAGCC
Band lengths:
172-268
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