Special

HsaINT0135645 @ hg38

Intron Retention

Gene
ENSG00000119943 | PYROXD2
Description
pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:HGNC Symbol;Acc:HGNC:23517]
Coordinates
chr10:98407904-98410958:-
Coord C1 exon
chr10:98410939-98410958
Coord A exon
chr10:98407998-98410938
Coord C2 exon
chr10:98407904-98407997
Length
2941 bp
Sequences
Splice sites
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
3' ss Seq
TGTGCTGCCCCACTTCCCAGGCA
3' ss Score
8.62
Exon sequences
Seq C1 exon
GACACAACGGACTGGTGGCT
Seq A exon
GTGAGTACCTCCCCACTTGATCCCACTTCACTGGCCCTGGGCGTGTGGCTCTCAGCAGCCTGGGAAGGAGTGTGAAGAAGCAGGTGGGATAAGGGCCTTGAGAGAGAAGGAAAAGGCAGCCTAGTCGATGCTCTCTGCTCTCCAGTGCTGACTGGGGGCTGGGTCGAATGCTCATCTGCAGCCAGCTGTGGACATCACAGGCTCCTTTCCTCCCCTTCCCCTAATGGGGAAAGGTGGTTTCCCCATGGCCTGTGAGGGAGTCAGGGAGCTTCCAGAAACAAGCTGACAAGGTGGGGAAGCATGTAACCAACACAGCATGAGAGCAGGTGGGAACCAGGGGATTGGGCACCTGGGGCGGGGTGGGGGCCCTTGACTCCAGATCATAGGCAGCCCTTGTGTCTAGAGCCCTGTGTTCCCAGCCAGGTCCAGGCCAGGTACCACCTTGGAGTACATAGCTGCTATGTGGCCAAAGTGTGCCCTGGAGACATTGAGGAGCTCAGTCTAGCAGAAGGGCCTGTGCCCTGTCCCCAACACAACTGACTTCAAGATCCCAAACTGAGCTGGATATCCCAGAGCTATCCTTAGCTTATGCTTCTGTAACCTGAGTCCAGATACCTCCAGGAGGCCACAGAAGGCATTCAAGGCCACAAAACAAATGTGGAACATCTTCTTGAAGCAGCAGCAGCTCTAGAACATCAATATAGGGGGAAACTGTGGCTGTGCTAACGGACTGATGTTAAACCTTAATACTTTGCCTGATGTCTAAGTTTTACTTGAACATTTTACGTGCGGCATTTTGTAACTCAATGGATCAGTAATTTAAAACATTTATTTTATTTTATTTTATTTTAATTTTTTTTGAGACGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCGCTGCAACCTCTACTTCCCGGGTTCAAGCAATTCTCCTGCCTCAATCTCCTGAGTAGCTGGGATTGCAGGCAGCCGCCATCATGCCTGGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGATCTCGAACTCCTGATCTCAGGTGACCCGCCTGCCTCAGCCTCTGAAAGTGCTGAGATTACAGGCGTGAACCACCACGCCCGGCCTGATTTTATATTAATATAAACAAAGATTCATCTCCCAGCTCTGCCACTTTGTGAAGGTTAAGGTGTCACTTAGCCTCTCCGAGTCACGGTAAAATGGAACAATGGCACCTGCCCTCACAGAGCTGCTGTGAAGGTAATAGATCATTTGCTGCTAGGACCTGGCACATGCAGCCTTGCCCAAATGGTGGCTGTTATTACTGGAAGTTTCCAGGCCAAGGAAGGCTGGCATCCACAGCCCTTCACCCAAAGCCCACCAGGAACACACTTGTAGTTAGTCTAGTTTGGTTTCTTGCTCTTTGCAGCGAGGGAACTCACATCAGGGGAACCTCGGGTTGCCTCAGTAGGAAGGTGTTAGAAAGAACCTAGCACAGGATTTGAGCTTTGGTGATTTGAGGGAAGGCCTACGAAAATAGGGGTTGCCACAGATTAGATACTGTCAGGAAGGAGGGACAGCCCTGCAACTGGGCAGCTCAAGAAATCTGATCTGTAGGGAGGAGAGACGAGTGTGCAGAGAGCAGTAATTGATAAAGAAGTAGCAGTCACTCATTTCAGCCAAGAGGGGTGTTCGGTATTTTCTGGATGGCACAGAGACATTGCTTTTGTTTGTGCTTGCCTCATTTTATCATAGTCTCATAGAAACCTTATTTGAGGTTGTCAATCTGTGAGATCGTTCCTGTGTAATAGGAGAATGACGCAGCTCACCTTGCGTGCCAGGCCTCAGCCACTGAGTGACAGCTGCTGTTTCTTTCTCAGTAGGTTATGATAGGAGGTTATGTTAGGAGGATAGATGCTGGTTTCACGCTGTCTGGTTTCAATTCCCAACACCTCTACTCATCAGCTCTGTGAGCCTGAGGCAAGCTGTTAACCTCATTGGGCCTCAGTCTTCTCATCTGTAAAATGGGAGAATCATAGTACCTACCTCTTGGCTGGTGGGAAAAATTAAACAAGACAATGTACTCACTGCTTCTGGCACATAATAGCTGCCAAGTGAGCTTTTTGAAAAGTCCGACTTTTGCATGGCACCATTCCTGTGGTCACAGGGCCAGCATTTTAGATCGGTAGATTCATGACCAGTTTGGTTCAACAAATATTTATTGATTTTTCCACTAAGTGCTAGAAAAAAATTAATAGAAATCCTTGCATCATTTGTTCTCCCAAAATAAAGCTCTGCTATGAACCGCTTCATTTACTGAGTACATTCTCTGTGCCAGGGACCACTTAAACCCTGTCTAGGAACCAGCTCAGTTAATCTTCACAGCAGCCTTATGAAGTGGGTAAAGCCGGGACTACTTTCATCAGCCCCACTTTTGCATGTGAACAAACTGAGGCCAGACGGATCAGGTACTGAGGCTGCAGCAGCAGAGAGAGAACGAGGGACTGAACCTGGGTGGAAGGGTCAGCATTCACAAGTTCCACCTCACTGTGCTGCGCTTGTAGGAGAAATGAGGCTGGCTCCCTGCCTGGAGGAGAGCGACATCCCAGGGCAGGGTGGCAGGAAGCAGCGTGAGTCCCCGAGGCACCAGGCCTCTAAGGAGGGAAGACCACTTTCAGCTGGGAAGTGGAGGGGCGGGAGCAGGCCTGTCGGATCTTAGAGGACATCTAGAAAAGGCGAGGGTGGAAAGGGAAGCACAGGGAAGGGCATTCCCAGAGGCAGGAACAGCATGAGCGGGGCAGGGAGGCCATGGGGTGTGGCCCATACTGGCCTATAGTGAGGACCTTAGTCTGCGGGTCAGCCCGAGGGAGCCCTGACATTTCAGAGGGATAAAGGGAGGGCCCTGTGTGCTGCCCCACTTCCCAG
Seq C2 exon
GCAGCGTACCTGCAGAGACTGGGGGTGAACACCGCCGTCTTCGAGAGGCGCCATGTGATCGGGGGTGCAGCTGTCACTGAGGAGATCATCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119943:ENST00000370575:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.094 A=NA C2=0.056
Domain overlap (PFAM):

C1:
PF134501=NAD_binding_8=FE(9.4=100)
A:
NA
C2:
PF134501=NAD_binding_8=FE(48.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
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