HsaINT0056488 @ hg38
Intron Retention
Gene
ENSG00000054179 | ENTPD2
Description
ectonucleoside triphosphate diphosphohydrolase 2 [Source:HGNC Symbol;Acc:HGNC:3364]
Coordinates
chr9:137051510-137052348:-
Coord C1 exon
chr9:137052231-137052348
Coord A exon
chr9:137051661-137052230
Coord C2 exon
chr9:137051510-137051660
Length
570 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
ATCTCTCTGCCTCCCTCTAGGTG
3' ss Score
13.5
Exon sequences
Seq C1 exon
TATGGCATCGTCCTGGACGCTGGTTCTTCACACACGTCCATGTTTATCTACAAGTGGCCGGCAGACAAGGAGAACGACACAGGCATTGTGGGCCAGCACAGCTCCTGTGATGTTCCAG
Seq A exon
GTGAGGCCCAGCCCAGCCCAGCCAGGACGCCCACTCACTGCAGGGTCTCTGGGACCCTCTCCAGCCTTAGCCAGTGCAGGTCCTTCTGCTTAGTGTTGGGTGGGGCTCACTCCAGGCAGAAGCCCTGGAAAGAGAGAGGCTGGTGCCCCTGCGCCTGAGTGGGGCCAGGAGTCGTTTGCATTCTAGAAAGGAAGCCTAGGCAGCAGGTGGGGAGGTTTGAGCCTCGCCGGGCCCAGTATTGGCTTCTGTGCCCCAGATGGAGCAGGAGGAGGTCTGGGGGCCTGGCGGACACACCCAGGCAGGCCTCAGGAGGCCAACCTGGGTTGACCATGCCCAGGGCTTTGTCCTAGCACCTGCACCCACACCCTCTCAGCAGGCAGCAGCCTTGGTCTCCGGGTGGCACCTGGGCCCCTTTGTCTCCAACCTGGGCGTTTCTGGGGGCTTAAGCAGGGAAGGTGTGCCACCTGGTCTGGGAGCCCACGGCCCCCACCCCCACCCTCACTCTCCTGGCCTACGGCCCACCTAGGGGCTGCCCGTGAGGCATAGGCTCATCTCTCTGCCTCCCTCTAG
Seq C2 exon
GTGGGGGCATCTCCAGCTATGCAGACAACCCTTCTGGGGCCAGCCAGAGTCTTGTTGGATGCCTCGAACAGGCGCTTCAGGATGTGCCCAAAGAGAGACACGCGGGCACACCCCTCTACCTGGGAGCCACAGCGGGTATGCGCCTGCTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000054179:ENST00000355097:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.075 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0115012=GDA1_CD39=FE(11.0=100)
A:
NA
C2:
PF0115012=GDA1_CD39=FE(14.1=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:
CTGGACGCTGGTTCTTCACAC
R:
TTGAGCAGGCGCATACCC
Band lengths:
257-827
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