Special

HsaINT0056482 @ hg38

Intron Retention

Gene
ENSG00000138185 | ENTPD1
Description
ectonucleoside triphosphate diphosphohydrolase 1 [Source:HGNC Symbol;Acc:HGNC:3363]
Coordinates
chr10:95842344-95844847:+
Coord C1 exon
chr10:95842344-95842494
Coord A exon
chr10:95842495-95844475
Coord C2 exon
chr10:95844476-95844847
Length
1981 bp
Sequences
Splice sites
5' ss Seq
CAGGTATAG
5' ss Score
8.73
3' ss Seq
TCAGCTCTTCCTTTGTACAGGAT
3' ss Score
7.6
Exon sequences
Seq C1 exon
GTCCTGGAATCTCAAAATTTGTTCAGAAAGTAAATGAAATAGGCATTTACCTGACTGATTGCATGGAAAGAGCTAGGGAAGTGATTCCAAGGTCCCAGCACCAAGAGACACCCGTTTACCTGGGAGCCACGGCAGGCATGCGGTTGCTCAG
Seq A exon
GTATAGCAGCATGTAGGGACCAAGAGTATCTGGGAGTTAGGCTTGGCAGTGAAAGAGCCTCTGAAGTTATGGGAAAGGGCCACACTCCCTAATACCCCAAGTTCTACACACCCAAGTCCATACTTAAGAAAGGATATTTTAGTAAGTGAATAAAATGTTCAAACTCTTAGTATATATAGGGGTAGGATTTTATGTATGTTAAAAAAAAAAGCCCCCTTGTGCATCTCCCTATGGGGGATTCAAAGGGGAAGGGGCACAGGGAGAGAAAGACTGGGCCCGTATACTCTGGGGTTTGGGGCTACAGATTTAACTATTCAATATCTGGGAGGAAGAGGATAAGAGGAGACTCATAGACATCCCAGGTCATAAATATTCACAACTAGCACATCTTTATATCACTTGATACCTGTGTGAATTATTTGTTCACTTGTTCATTCATTCAGCATATAGTGCCTGCTCTATCCAGAATATGAAAACTCAACCCTCAAGGAAATCAGTTTCAATGCAGGGTGATCAGTGTTTTAATAGAGGAGTGCTCAGAGCTGCTATGGGAGCACATTTGGCCCTGCCCAGGGTGAGAGGAGGTCAGGAAGACTTAGAGGAAGGGATGCCTGAACTGAATCATGAAAAATGAGTTGGAGGATCGGGGAACAGCTTTATCAGCAGAACAGACAGCATGCATTCAGTAACTGATGTTTATTCAGCACCTATTATATGTCAGGCACTGTTCTAAGTACTGAGGATACAACAGTGAACAGGACAAAGTCTCTGACTTCATGGAGCTTGTGTTCTACCGGATGTGCAAAGGTAGGGAAGTGTGAGAGGCATATTCAGAGGACTGTAAGTAGTTCTGCATAGATAGAAGATAGGTAAGTAGTGTAAAATAATAATGATAATAATAGTAGCAGCTCGTATTTATTGAGCCCGTCCTATGTTCTTAGCACTACGCTAAGCACTTAATTGCACTGTCATAACAACTCTATGAAATTAACAATTATTAACAAGATAAGGAAGCTGTGGCTTACAAATGTTAAGTAACTCACCCAAGGTCACACACCTGGGAAGTGGTGGAGCCAGGATTCTGAGTGGGATTCTGAAAAGGAAGGGTCCAGGTCACAAAGTGCCCTATGGGGCCATGCTAGGAAGTTTGGAGTTTATCTTAGAGATAGTAGGAAGCCATTAAAGGATGCTACACAACTGGTGACACTGGTAGAGAAGATGGATTGGAGGGGAGAAAAGCTGGGGATAAAAGGAAGGCAGTTAGTAGGTGTGGACGCCATTTAGATGAGAGATGACAGGGGCCTAATGCCAGCTGGAAGGTAGCATCCTCTCGCTCAGAGACTCCCAGTGTTGGGTAGCCTAGATCTTGGAAGCAATTGCATCCCATCTTCATTAAGACAACCCTGGAAGATTCCTTCTTTAGGTCTCAAGGTCTCAAACAGACCCAAGAACTGAGCTGTAATATGAGGAAGATTTTTCCCAGTCTGGCAGCAGAGGAGATTGGATATCTATTCCAGGTCATTTGCCACCTGGTTTCTACTAGAACCCTAATTAAAAACCTGGAGCAGAGTCTGGCCATGTAACCAGCTAGGAGCCACCCACAGTGGTTAATATAGCACACATCAGCTTCAGGTATGGTCATCAAACCATACCCAGCTATCACCACCACAGTAATTTTAAGAGCCTTTGATAACTTTTTGAGCCAGGGAACTTCAGAACAAAAGTGGTATTTTAAGGAAAACCAACCTATGAAAGGATTGGAAGGATGTGGATTTGGAGAGAGATGAACAAAATATTAATTCTGCCTCATCCAAAAAAGGGGTTTCTTGGACAGCTATGTGCGAAGATCCCCATCTCTTCATTTATTCCAGGGCATTATGGTTCACTTCTTAGTAGCACTGTGTGGATGCTGTAGCTGAAATGGGTAATGTAATATAATTATTAAAACAAAAATGATAACCTCAGCTCTTCCTTTGTACAG
Seq C2 exon
GATGGAAAGTGAAGAGTTGGCAGACAGGGTTCTGGATGTGGTGGAGAGGAGCCTCAGCAACTACCCCTTTGACTTCCAGGGTGCCAGGATCATTACTGGCCAAGAGGAAGGTGCCTATGGCTGGATTACTATCAACTATCTGCTGGGCAAATTCAGTCAGGTGAATATCTCACAGCATCCATGGAGGTGGCTCTCTGGAGGCCAATGCCATTGCTATCTCAGGCAGTACTTGGGTCGCTAGCCAGAATGAATGAATGAATGATAGATGGATGGATGGATGGATGACTGGATGAATGAATTTACTCTCACATTTGTAAGGGTCACCAGAGGTATAATTCTCTTACAAGACCTTCTACTATTGGGAGAATAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138185:ENST00000490659:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.063 A=NA C2=0.005
Domain overlap (PFAM):

C1:
PF0115012=GDA1_CD39=PU(67.4=96.7)
A:
NA
C2:
PF0115012=GDA1_CD39=PD(16.9=18.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TTGCATGGAAAGAGCTAGGGA
R:
CATTCTGGCTAGCGACCCAAG
Band lengths:
342-2323
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