HsaINT0056491 @ hg38
Intron Retention
Gene
ENSG00000054179 | ENTPD2
Description
ectonucleoside triphosphate diphosphohydrolase 2 [Source:HGNC Symbol;Acc:HGNC:3364]
Coordinates
chr9:137050284-137051129:-
Coord C1 exon
chr9:137050902-137051129
Coord A exon
chr9:137050539-137050901
Coord C2 exon
chr9:137050284-137050538
Length
363 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCCC
5' ss Score
5.77
3' ss Seq
CACGCTGGTGATTCCCCCAGACC
3' ss Score
7.14
Exon sequences
Seq C1 exon
TACGGCTGGGTGGGCCGGTGGTTCCGGCCACGGAAGGGGACACTGGGGGCCATGGACCTGGGGGGTGCCTCTACCCAGATCACTTTTGAGACAACCAGTCCAGCTGAGGACAGAGCCAGCGAGGTCCAGCTGCATCTCTACGGCCAGCACTACCGAGTCTACACCCACAGCTTCCTCTGCTATGGCCGTGACCAGGTCCTCCAGAGGCTGCTGGCCAGCGCCCTCCAG
Seq A exon
GTGCCCCTCCACCCTGGCTCACCTGCACTGCACTGTTCCCTCCTGGAGCAGAGCCTGGACAGCCACTGTGCTGTGGAAGGCTTCTCCAGGCTGGGCTTTAATTGGCTGGAAAGACAGGTGGGAGGGTCAGAGCATGAGCAAAGGCCCAGTGGCTGGGCTGGGCCTGGAGAAGGGAGGGCCAGGGACGGCTCTCAGAGGGAGCCTGGTCAGGGGCGTTGGGATCTGTCAAGCAGGCAGTGGGGAGCCATGGATTGCCCCTGAGCACAAAAGTGAAGTTGCCAGAGTGAGACCTGTGGGAGGTTTGTCAGGCTGGTCCTCTGGAGCGGTGGTGGTGCCACCCTGTCACGCTGGTGATTCCCCCAG
Seq C2 exon
ACCCACGGCTTCCACCCCTGCTGGCCGAGGGGCTTTTCCACCCAAGTGCTGCTCGGGGATGTGTACCAGTCACCATGCACCATGGCCCAGCGGCCCCAGAACTTCAACAGCAGTGCCAGGGTCAGCCTGTCAGGGAGCAGTGACCCCCACCTCTGCCGAGATCTGGTTTCTGGGCTCTTCAGCTTCTCCTCCTGCCCCTTCTCCCGATGCTCTTTCAATGGGGTCTTCCAGCCCCCAGTGGCTGGGAACTTTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000054179:ENST00000355097:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.039 A=NA C2=0.012
Domain overlap (PFAM):
C1:
PF0115012=GDA1_CD39=FE(21.2=100)
A:
NA
C2:
PF0115012=GDA1_CD39=FE(23.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGCCTCTACCCAGATCACT
R:
GCTGAAGAGCCCAGAAACCAG
Band lengths:
348-711
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