Special

HsaINT0124462 @ hg38

Intron Retention

Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23396]
Coordinates
chr9:128934011-128936503:+
Coord C1 exon
chr9:128934011-128934058
Coord A exon
chr9:128934059-128936447
Coord C2 exon
chr9:128936448-128936503
Length
2389 bp
Sequences
Splice sites
5' ss Seq
ACGGTGAGC
5' ss Score
9.44
3' ss Seq
AGCTTCCTTCTGTCCCATAGCTC
3' ss Score
7.79
Exon sequences
Seq C1 exon
GAAATTTCCTGGTCCCTCCGGAGAAATCCATCAACAAAATTGGCCACG
Seq A exon
GTGAGCAGGGGCTTGGGGGTACAGGAAAGAAGATCGGGGAACAGGCTGGGAGTGGTGGCTTACACTTGTAATCCTAACTAACACTTTGAGAAGTCAAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAGAAAAAATTAGGTGAGTGTAGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGATGTTGCAGTGAGCTGAGATGTGCCATTGCACTCCAGCCTGCCTGGGTGACAGAGACAGAGTGAAACCCTGTTAAAAAAAAAAAAAAAAGAAAAGGAAAAAGCATGGGGAAACTGGGGAAACTGAAGCCTGAAGAGTTTAGGAGCTTTAATGAAAGCCCATAGTGGCTGGGCGTGGTCGTTCACGTCTGTAATCCCAGGACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAATGTGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGAATATGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCGGGAGAATAGCTTGAACCCGAGAGGCTGAGGCTGCAGTGAGCCGATATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAGCAAACAAGAAAGAAAGCCCATAGTAAATTAGTGGTCGGGTAAATGGCATTTGTGGCTTCAGGCTCCCCTCTGGTCTTGGGCCCCTCTGCTAATCATGACACTGCTGCCACAGCACTGGGGATAGGGGGTCCACCTGATCCCCCCTAACAGGTGGGCATGTGCAGGCTCTCTACTGCCTGGCCTGGGGGAGCTCCTGGGTCCAGTGCTCCCTAGAGCCACCCTAAGGGGCACCTGACCTGCTGACAGGGTCCCTATTCTGACACCCCAAAGTCAAGTAAGAAAACCCTCACTTTTTTTCTTTAGGATCATACATTATAATTTGTTTTATAGGCTATTTATTTTTTTAAATAAAATTGAGAGGAGGTCTCGTTATGTTGCCTAGGCTGATCTTCAACTACCGGGCTCAAGTGATCCTCCTGCCTTGGCCTCTCAAAATGCTGGGATTATAGGCATAAGCCACTGCACTTGGCCTAGAATGCTTATTGTTAAGCCTGAAGTTATATCATGGTAAGCTTGTAGACAAGTTGTGGTAAAATACACGTAAGATTTACCATATCATTGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAACACAAAAAATTAGCCGGACCTTGTTGTGGGCGCCTGTAGTCCCAGCTACTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAAGATTTACCATATCATCATAACCCTTTTAAAGTACGTAGCTTGGCCGGGCGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAAAACCATTTCTACTAAAAATACAATAATTAGCTGGGCGTGGTGGCACATGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTAGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAACTAAATAAATAAATAAAAATAAAAAGTACATAGCTCAGTGGTATTAAATGCATTCAATCTTATGTTTATGACAATGAGGGACTATCCCATGCCAGGCCCTGGGCTGTCCCTGCACATTCATTAGCCCATCGAGTCCCACACCAGTCCTGCCTCCCAGGTTCTTCTAATCCTCATTTGACAGAAGAGGAAACTGAGGCTTACAGGAGAGAAATGGTTACCCGAGGCCACACAGAGCAAATGGTGGTACCGAGATTGCTCCGCATGATTGGTGCCTTGGAGCCCTTAGTCGTCTGTGAGGGGTGGGGAGTCGGGGCTGGACTGAGCTTCCCAGAAGGTCAAGAATAAGGGCATGGGTGGCATAGGGCCTGGGGTGGGGGCAAGGCTCCTGTGGAGCCCATTACTCAGTTGTAAACAAGCAGAAGGGTTAATGCCTACAAAGTAAGTGAGAATGTCAAAGTAAGCCTGAGTGTGGGTGCCCAGAGCTGGGTGTGGAGGGACACGTGGGCCTGAGATGGGGCCGACAGCTTCCTTCTGTCCCATAG
Seq C2 exon
CTCTGCACGCCCACGACCCCGTCTTCAAGAGCATCACACACTCCTTCAAGGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175287:ENST00000372592:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.016 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF057218=PhyH=FE(11.3=100)
A:
NA
C2:
PF057218=PhyH=FE(12.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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