HsaINT0056564 @ hg38
Intron Retention
Gene
ENSG00000188833 | ENTPD8
Description
ectonucleoside triphosphate diphosphohydrolase 8 [Source:HGNC Symbol;Acc:HGNC:24860]
Coordinates
chr9:137435204-137436276:-
Coord C1 exon
chr9:137436013-137436276
Coord A exon
chr9:137435339-137436012
Coord C2 exon
chr9:137435204-137435338
Length
674 bp
Sequences
Splice sites
5' ss Seq
TATGTGAGC
5' ss Score
2.97
3' ss Seq
CTTGGTCTCCTGGGCCCCAGGTG
3' ss Score
7.35
Exon sequences
Seq C1 exon
AGCCGCCCGGCTGCCCTGCTCCGTCACCCGTGCTACCTCAGCGGCTACCAGACCACACTGGCCCTGGGCCCGCTGTATGAGTCACCCTGTGTCCACGCCACGCCCCCGCTGAGCCTCCCCCAGAACCTCACAGTTGAAGGGACAGGCAACCCTGGAGCCTGCGTCTCAGCCATCCGGGAACTTTTCAACTTCTCCAGCTGCCAGGGCCAGGAGGACTGCGCCTTTGACGGGGTCTACCAGCCCCCGCTGCGGGGCCAGTTCTAT
Seq A exon
GTGAGCACCTACACTGCCCCCACCAGGGGTCCGGGCTTCCTTGTGAGGCCTCAGGTGCCTGTCTGACTCCAGCAGGCCCAGGAGGGGCCCAGGCTGGCTCTTAGGGGCTCTGGGAGCCCGGGTGGGGTGGATCTGGCCCAGCGTGGCCACAGCGAAGGCACAGCCACCTCCCCTCTCACTCAGGCCTTCTCCAACTTCTACTACACCTTCCACTTCCTGAACCTCACCTCCAGGCAGCCCCTGAGCACGGTCAACGCCACCATCTGGGAGTTTTGCCAGAGGCCCTGGAAACTGGTGGGTGGGCCCTGGGCTCCCTGGCTGCAGCGAGGGTCCCTGAGGGTACAGGGCTGCCTCGGGCAGGATGCTGGAGCCTCATTCTGGGCAGCACGGCCAGCAGGGCCGGGGGAGGCAAGGGCAGAGGACAGCTCCAGGCCGTGCCACTCCAGGTAGGAGGCTGTGGCCACGGCCGCAGCTGGGCCCAGCCTCTGGCCCGCCAAGAAGGGGCCGCAACCCGCACCACGTAACTGGTCGGTGGGGCCAGGGAGGGGCTCTCTACCACTGCCCGGCACCCTCTTGTTGTCTGCGTGCTCAGGTTGGCCAGGACAGATGGGGCGGTCCCCGCATGACTGGGGATCAGGGGCCCTCACCTCGCCTCTTGGTCTCCTGGGCCCCAG
Seq C2 exon
GTGGAGGCCAGCTACCCTGGGCAGGACCGCTGGCTGCGGGACTACTGTGCCTCAGGCCTGTACATCCTCACCCTCCTGCACGAGGGCTACGGGTTCAGCGAGGAGACCTGGCCCAGCCTCGAGTTCCGAAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188833:ENST00000344119:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.023 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0115012=GDA1_CD39=FE(26.9=100),PF0115012=GDA1_CD39=PU(2.6=2.3)
A:
NA
C2:
PF0115012=GDA1_CD39=PD(1.5=11.1),PF0115012=GDA1_CD39=FE(56.4=100)
Main Inclusion Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTACCTCAGCGGCTACCAGAC
R:
CAGGTCTCCTCGCTGAACCC
Band lengths:
342-1016
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development