Special

HsaINT0124459 @ hg38

Intron Retention

Gene
ENSG00000175287 | PHYHD1
Description
phytanoyl-CoA dioxygenase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23396]
Coordinates
chr9:128922283-128927196:+
Coord C1 exon
chr9:128922283-128922356
Coord A exon
chr9:128922357-128927037
Coord C2 exon
chr9:128927038-128927196
Length
4681 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
3' ss Seq
AGTCTCAAGCCTGCCTGCAGTTC
3' ss Score
0.1
Exon sequences
Seq C1 exon
GAGGCCGCGCTTAGAAGCCGCCCAGTGCCCTGAGCGTCTCCATGGCCTGCCTGAGCCCCTCGCAGCTCCAGAAG
Seq A exon
GTAGGAGCCTGCAAGTCGGGGCCGGGAGGGTCATGGCGGGGGGGTCCCTGCCGGACCTTCAGTAGTCCCAGTGCCCAACCCACCCCCTGCCCCATTTTACCGAGGACGAAACTGAAGCCCAGAGGAGCGGGTTCCCAACCGCAACCCCTCCTGACTTCTTCACACATAGCCCTGGGTGTCTAGATCACAGGACCCAGGGTAGGGTGGGGTGGGGACGTGTGTGTTTGACCAAAAACGAGAATAAGGCCTCGGAACCCACCAGTTCAGCCCTGGGCGGGAGTCGGCAACGCTGTTGGGGGGCGCAGCGCCCAGGAGGGGGCGGGGCCTGCGAGGGGCCCAGGAGGGCCCATGTTCGTCCAATCACAAAAGGCTACCTCGTAGGAATTAGTGTGCAACAGCCTTTTAAAAAATCACTCATACATTCCTACGCTGAGACTTAATATTTTCGTATACAGCTCTAGAAGCTTTGTTTCAAAGTCTGTTACAACAGCTACCACGAATCAAGTGCTGGACAGGTTTTTTTGGGAGGGTAGGGAGGAGACGGGGTCTTGCCACAGGCACACGCCCCCATGCCCAGCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAACCTCTGACTCCCAGGTTCAAACGACTCTCCTACCTTAGCCTCCCGAATAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGACTGGTCTTGAACTCTTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTCCTATTTTTATTTTTGCAGAGATGGGGTCTCACTTTGTTGCCCAGGCTGGTCCAGAGCTCCTGGGCTAAAGCGATCCTCCTGCCTTGGCCTTCCAAAGTGCTGGGACAACAAGGCATGAGCCACCGCGCCCAGCCTGCCAGCTTCAATAAAGGAGGCTGTACTGCTATCCCCGTTTGGTAGCCCGAGGGCCAGAGAAAGGAGGGCACTTACTTGGTCAAGTTCTCACAATGGCCAGATAATCATGTATAGCCAATCTTTGAGAGGAAATATGTTTCTACATGATTTTTATCAGCTATACTGTGTTCCAGATAGATAAACTATACTTTGTTAAACTAATCCCCTTGCGCTGAGCATTTAGATTACTCCCCACTTGGTTCTGTCATGAAACAAGGCTCAGTGAATATCCCCATATGTATATGTATATCTTTGATCCCCTATTGCGTAATCCTCCTAAAACAATTCCTAGCTGTGGCTCACGTCTGTAATCCCAATCCACTTTGTGATGCCAAGGTGGGAGGATCGCTTGTGCACAGGAGTTCAAGACCAGCTTGGGCAATATAGCAAGACTCCTTCTCTAAAAAAAAATAAAACTGGCCAGGCGCGGTGGCTCACCTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGCGGAACCCTGTCTCTACTAAAAATACAAAAATTTAGCTGGGCGTGGTGGCGCACACCTGTAATCCTAGCTACTCAGAAGGCTGAGGCTGGAGAATCACTTGAACCCCGAAGGCAGAGTTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGTCAACAGAACAAGACTGCGTCTCAAAAATAAAATAAACAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAAGTGGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAACACAAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCAAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCGCTCCAACCTGGGCAACAGAGTGAGACTCTGTCTCAGAATAAAGTAAAATAAAATAAAATAAACAATAAAATAAATAAAATTAGCCAGGCGTGGTGGTGTGCACCTGCAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGGATTGATTGAGCCCAGAAGTTCAAGGCTGCAATGAGCTATGATCACATCACTACTCTCCAGCCTGGGTGACAGAGAGAGACCCTGTCTCTTAAAAAAAAAAAAAAAGAAGAAGGAAAGAAAAGAGAAAAGGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGTCCGAAGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCATTCCTGTAATTCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTAACCCTGAGAGGTAGAGGTTGCGATGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCAAAAAGAAAAAAAAGGAAAAAAAGAATTCCTAGCTGTATTTGTGTATTTACTGGATCAAGGGTATGTTGCACAGGTTGCTGTGGTTGGCCCAATTCCCAAGGAGGCAATTTTCAGCTTGATACTGATGTGATTAATTCCTAACATGCAGAGCTGAGGGGCCCATGGTGGGTGGTCATGAGTGGTGTGTGGAAGCCAGAACTGAGCATCCCATGGTGGCGGAAGGGGTGTCCTTAACCGGAAACTAGGCTCTTTGTGGGTGTGTGCAGTAAGTGACTTTCTTTTCTTTTTCTTTCTTTTTTTTTTTTTTGAGATGAAGTCTTGCTTGGTCTTCTAGGCTAGAGCGCAGTGGCGTGATCTCAGCTCACTGCAACTTCTGCTTGCTGAGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCTTGCTGGCCAGGCTAGTCTCCGACTCCTGACCTCAAGCAATCCACCCAGCTTGACTTCCCAAACTGTTGGGATTATAGGTGTGAGCCACCATGCCCAGCAGTAGGTGACTTTCAGTGTCCCTGTTGGGGCTAAAACTTGGTAACGCTCTGCAGGCAAATGTGCAGATATTCATTCCCTCCCTTTCTCTCTCAAGAGCCTCAGAATAAGAGGACCAGAGGCAAATCAGAAGAAGCCATCTACTTCCCCTCCCTGGCTGCCACTGCGCTCAGGATAGAATATAGCTCCCAGCCTGGCCCAGCCCCTGCCACCCTCCTGCCTCCTCTTCCACCCCTCCCCTCACTCTGCCCTATCCATTCCCAATTCCTTATGTTCCTCCCAAATTCAGGGGCTTCCCATATCCTGCTCCCTCTGTCTGGAATGCCCTTCCCTTATCCTGCTGGTCCCCTCTTGAAATGTCACTCCCTCAGCGCTGCTGCTCCCAGACCCTTCTCCTTCCCAGCCAGCTTACGCTAGCTGCTTCTGCCTTCAGCACTCACACTCATCCTCTCTCTCTGGCACGAAGTTTGTGACAGTAAATTTACCTGTGTGGTTAGTGTAATGCCGGTCTCTTTCACTAGACTGTAGACACCATGAGGGCAGGCATCATGGCTGGCTTGCTTATAGCCATACTTTTAGCTCCTAAAACCGTGTCTCAGACACAGTAGATGCTCAATCAATATTGGCTGAATACATGAATAAGGTTGTGTTTCCAGGTGACCCAAGCCTGGAGGGGAAGGGCAGGGACAACTTTCCCTTGCCGCTCCTTTTTCTTTTCTTTTTTTGAGACGGAGTTTCGCTTTTGTTGCCCAGGCTGGAATGCAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCTATTCTCCTGCCTCCAAGCTATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGATTACACAGGCATGCGCCACCACACCTGGCCAAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTGGAACTCCCGACCTTAAGTGATCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCTTCCTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTCGAGGTGGAGTCTCATCTGTTGCTCAGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCCAGCTAACCATGCCCTGGCTGGTTTGAGACCAGCCAGGATGGTCTCAAACTCATGACCTCAAGTTATTGCCCGCCTCAGCCTCTCAAAGTGCTGGGATTAGAGGCATGAGCCACTGCACCCGGCCTCACTACTTGTTCTTCCATTCAAGCAGCCAATATTGATTGCTCTTTGCTGGGTGCCAGACTCCATGCCTGGGGTTGGGGACAGGGCAGCAAACAAGATACCTGGTCCCACCTTCACACAGCTGCAAGGTTGAGGGAAGGGTCAGACAGGAGCATTTGCAGACTGGGGAAGCCTGAGTCTCAAGCCTGCCTGCAG
Seq C2 exon
TTCCAACAGGATGGATTCCTGGTGCTGGAAGGATTCTTGTCTGCGGAAGAGTGTGTGGCCATGCAACAAAGGATTGGCGAGATAGTGGCTGAAATGGATGTTCCTCTCCACTGCCGCACAGAATTCTCCACCCAGGAAGAGGAGCAGCTTCGAGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000175287:ENST00000372592:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

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

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


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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