Special

HsaINT0135648 @ hg38

Intron Retention

Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:HGNC:23517]
Coordinates
chr10:98397345-98400257:-
Coord C1 exon
chr10:98400102-98400257
Coord A exon
chr10:98397499-98400101
Coord C2 exon
chr10:98397345-98397498
Length
2603 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
3' ss Seq
AATGCAGAGCTCTGTTCCAGGTC
3' ss Score
1.31
Exon sequences
Seq C1 exon
AAACATGGGCTGAGGCTTCATCTTCGAAACCCCTACTCCTTCACCCCCATGCTGGAAGAGGGTGCAGGCAGCAAGGTGCCCAGGTGCCTTCTGCTGGGCACAGACATGGCAGAAAACCAGAAGCAGATCGCCCAGTTCTCCCAGAAGGATGCCCAG
Seq A exon
GTAGGGAAGGCGACCAGTGACTGAGCTCCTGCTCCCTCAGCAGCCTAGAGATGGGCCTGGTTGGATTGTCCTAGAACAATTGTTCAAAGGCCATGGACACTGCGCCAGGCCACCCCACGTTCCTAGGAGGGCTCCAGTTGGTGGCAGCTCTTGATCTCAGGCACTGCGAAGAGAAGCGGGTGGAGGATGCTGATTAAGACCAGTGGACTGGGAGGCCTGCTCACCTGCGTGTGTTCAGTATGGGGCCACTGTCAGAGGGGCTGTGCCTGCTGAGTTCAAGAGGAAATGCACTGGCACGTTCTTACACTGGCGTGTGCTTCATGCCCCTCCAGCTTTCAGGCAGAGTTCCAGGTGTTTGTCCACATTAAAGCACATGAAAGCCAAAAAGGAGGATGAGGGAAGATCAGAGAAAATTAAGGATAAATAAACTGAATCAGGAACTTAGGACAGGAGAGTTCTAAATATTTATTCAGTGTGGCATCCCAAGGCTCCCTCCTGGCTGCCCAAGGCAACAAAGTGTCCATGATGGTGTGCAGGTCTGGTGACAGGATGAACACATGTCGGATGGAGAATGCACTTTTTTCCCTTGGAACTGCATTCTAGGAACCTGCTGGGTGGCCTTGTCTAGATGAGCCACTGAGTTCCGTAAGGGCCCTGCCACAGTTGGTTCTGTGGATATAGAAAGATTATTTGAATGGCCATTTTGTACCAAGCCTGGATATTAGCTGAGATGTAGCATTAAATCATATCTCAGTGGAGACATTTTTATAAGAAGAACCTAGGTTAATAGAACCCATGTACATTGCTTTTGTTGTGTTAATCTATTGCTGGGTAAAACTTAGAGAACCACAGACACACAGCCTACATGTCTCTTCCACCAGCAGTTTTCAAACCTGGCTGATGATCAGAATCACCTGAGGAGCTTAGCCTTTTATTTTGTTATTTTATTTTATTTGTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGTAACCTCTGCCTCCCGGGTTCAAGCAATCCTCCTGCCTCAGCCACCTGAGTAGCTGGGATTACAGGCATTCACCACCATGCCCGGCTATGTTATTTTTAATTTTTTTGTAGAGACAAAAGTCTCACTATGTTGCCCAGGCTGGTCTGGAACTCTTGAGCTCAAGCAATCCTCCCACCTCCACCTCCCAAGGTGCTAGGATTACAGGCATGAACCACCACACCCGGCCTGAGGAGCTTAGCTTTTTTAAAAGTGCTTCTTTGGTGGTTCTTTTGTGCAGCAGATTGGAGACCACCACCTGCATCCTCTCGTCCAAATCCTACCCATCTCAGAGGCACTTGAGGGGATTCTGCACAAGGCCAGGTCCCCGGGCCTGCAGGACACTAGCTGTGGCCCTACATGCCAGCGACCACACACGCTGGAGGCAAGTGCCCATTTCCCATCGTGGAAAGTGAGGAGCTTGATTTCTGGTTTTGTCTTTCCATGCTGTCATATTAAAGGCCTGCTTAGAGAAAGCTGTTTAACTTCATTTTTAATAAGACTTCTCGAATGTATTTTAACATGGAACTTTTCTTTATGTAACACTTATTAAAATGCCATGGGTATATCCATGGGTAGAGATGGACCAAAATTCAAAGTCCAGGGCTAAGAAGAGTCAGGTAGGGCCTCCAGTAGCACAGGCTTCTATCACTGCTCCTGTGCCCTCCAGGGAAAGGAGGGTGGGTGTCAGAAACCAGGCTTTCGAAAGTGGATTCTGACATGGGAGCTTGTGGGGTGAGAGGAGGCAGGCTTCTGTGACTGCAGGTGATGAGACGGCATGGGAGACGACCTACAGACCGGAAAAGAATACAGGCAAAGAGGTCTAACTTCTACCAATAATATAGGAAAGGACAGAAGGACAGGCCAGCGTGGCGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGAAGTTCTTGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGACATCGCACCACTGCCCTCCAGCCTGGGTCACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGAAAGGACAGAAGGAAGAAACTTCTAAGTGGTTTCATGATTTATCGCAGAGACCACACCCTAGGATTGTTGCCAGTTTTCTGTGGGTGACACTTCGTGTTAGCCAGCATTAGCTCCTTGTCCCTGTCACCACTCCCAGTGATTCTCCTATTGCCCAGGGTCTCCTGACCACCACCACCCCACCCCATGCACTCTTCCTGGTGTTGATGTTAACCCAGAGACCTGGAACTGGGGGAGCTCAACAGAGCCAAGCTGGGCCACAGCGGGGAATGAGGCCTGAGGAACCGTCAAGCTGTGGGGGGGTGACAGGCCATCTGGGGACAGCATGGAGGGCAGGGATGTGGACAGTGGGGCCTTAATGCAGAGCTCTGTTCCAG
Seq C2 exon
GTCTTTCCCAAATATGAGGAGTTCATGCATCGCTTGGCATTAGCCATTGACCCTCTGCTGGATGCGGCCCCCGTGGACATGGCGGCCTTCCAGCATGGCTCCTTGCTGCAAAGGATGAGGTCGCTCTCCACCCTCAAGCCCCTGCTGAAGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119943:ENST00000370575:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.002 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
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