Special

HsaINT0056561 @ hg38

Intron Retention

Gene
ENSG00000188833 | ENTPD8
Description
ectonucleoside triphosphate diphosphohydrolase 8 [Source:HGNC Symbol;Acc:HGNC:24860]
Coordinates
chr9:137436869-137437309:-
Coord C1 exon
chr9:137437159-137437309
Coord A exon
chr9:137437029-137437158
Coord C2 exon
chr9:137436869-137437028
Length
130 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
CCCTGGTCCTCTGTGCCCAGCCG
3' ss Score
6.61
Exon sequences
Seq C1 exon
GGCCTGGAATCTCCTCCTACACTTCTAATGCTGCACAGGCTGGTGAGAGCCTGCAGGGCTGCTTGGAGGAGGCGCTGGTGCTGATCCCAGAGGCCCAGCATCGGAAAACACCCACGTTCCTGGGGGCCACGGCTGGCATGAGGTTGCTCAG
Seq A exon
GTGAGGCAGGCATGGCCTTGGCACCCACGGGGAGTGGCTGCAGAAGCCATGGTCTCAGCCAGCGTGGCAGGCAGGGTGGGGCCGGGCCCAGGCTTCCAGCCAGCTCCAGCCCCTGGTCCTCTGTGCCCAG
Seq C2 exon
CCGGAAGAACAGCTCTCAGGCCAGGGACATCTTTGCAGCAGTCACCCAGGTCCTGGGCCGGTCTCCCGTGGACTTTTGGGGTGCCGAGCTCCTGGCCGGGCAGGCCGAAGGTGCCTTTGGTTGGATCACTGTCAACTACGGCTTGGGGACGCTGGTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188833:ENST00000344119:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.008 A=NA C2=0.012
Domain overlap (PFAM):

C1:
PF0115012=GDA1_CD39=FE(15.5=100)
A:
NA
C2:
PF0115012=GDA1_CD39=FE(16.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([1])
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCTAATGCTGCACAGGCTGG
R:
ATCCAACCAAAGGCACCTTCG
Band lengths:
255-385
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