HsaINT0056487 @ hg38
Intron Retention
Gene
ENSG00000054179 | ENTPD2
Description
ectonucleoside triphosphate diphosphohydrolase 2 [Source:HGNC Symbol;Acc:HGNC:3364]
Coordinates
chr9:137052231-137054045:-
Coord C1 exon
chr9:137053881-137054045
Coord A exon
chr9:137052349-137053880
Coord C2 exon
chr9:137052231-137052348
Length
1532 bp
Sequences
Splice sites
5' ss Seq
AAGGTGCGC
5' ss Score
9.05
3' ss Seq
TCCCTCCCCCTCCCCCGCAGTAT
3' ss Score
10.17
Exon sequences
Seq C1 exon
CCGCACTCTCCGGGTCCACGCATCGTCCTCCCGCGCGCCCGCCCGCCCATGGCCGGGAAGGTGCGGTCACTGCTGCCGCCGCTGCTGCTGGCCGCCGCGGGCCTCGCCGGCCTCCTACTGCTGTGCGTCCCCACCCGCGACGTCCGGGAGCCGCCCGCCCTCAAG
Seq A exon
GTGCGCGCCCGGGCACCCAGCGCACGTCTGGGGAGCAGCGGGCCGGGCTTGGAGCCGGGGAGGGGGTGCGGCTGGGAACCTGAGCAGGATCAGCCCGGGACCCCCACCGTGCTCTGCTCCTGGCGGGCTGGGTGGGGTCCCGGGTTCCGCGCTCTGCGCTCCCCGACCGGGTACGCGGAGGGGGCGGGGGGCGGTGGCGCTTCCAGGGCGACGCGGTGCTGAAGGAACAAGTCCCGGGAGTTCCGCGCCCGCCGCCGAGTCCGTCAACGCAGCCCAGGGGCTGTGTCCCCGCTCCCGGGATAGCCCAGCGATGCCCCCTGGGTGCTGCCGGACGCCCGCCCCCAGGCCTGTGCGGGCCCCCAGGGGCACTCCGGGCCACTTCTGCCCTGTGCCGCCGCCCCGGAGGGTGCGGTTAGAGCCACATCGACTGGGTATTCAGCCCAGATGGGGATCCACAAGCCCCAGGACCCAGGGCCCCCGCCAGGACACGAGAGTGGCCCAGAAAGACAGGAGGGCTTGACCGGAGCAGCCCTGGCCGGTCCTCAAAAGGTTGGAGCAGGCTAGCCTGGATCTCCACTCCAGCAGGCCCAGGGACCTCCTGGTCGGCCCCTTTAACCCTTTATTGGGCTTGTAGGGGGGTGGGGTGGAGAGCCAAGTCCCCCAGCCTGATGGGGAGTCAGAAGCAGGGAGCTCTGCGGCCCTGCAGGACGGCCATGTGGCGGTGCACGCGCTGACCTGTTGATGCTCTGGGCTCTGGGGAAGCCTTGGTCGGGATGGACTGGTGCGGCCCTCTCGGAGGCTGGAATTGGCGCCCGGGCCTGGGAGGCTGGTCCCCAGCTTTCCAGGTGGATCCAGGATGCTGGGGCAGGAGCTGGAAAAGGGCATTTACAAGCTCGTGCCACTCAGGTCTGCAGGAAGGCCCACCCAGCACCCCCAACAAGGCAGGGCCAGCCTCTCTCTCTGGCCCTGGCTTGGAGGCCTAGGGAGAGTGTCTTTAGAGCTGACCTGGCTCTGAGGCCCACGGCCAGCCTCGGTGGACCTTCTTCACCTGGGGCCCTGCCTCCTGCATCCTCAGGTTGGGCTGCCGTCAGAGGAGCTGGAAGGAGACAGAGGAGGAAGGAAGAGGGGAGGAAGGAAGAGGGACTCTAGGGAGCTCCTCTTGCAGAGGAGCTTCCTCTCCCTGAGCCTGGGAAACTTGTGCCCCAGGGAAAAGTCCCTGGGGACCCTCTGTCCCTCTGTCCCTGACTCAGTCCCTCAGTCTGCCCTTGCCAGGAAGGCTGCTGCCCAGACCCTGGCATGCTGGCTTCAGGTAGTCAGGAGGGAAGAGTCACCTCCCCACCACCTCCCTGTTCTCCTTCCAACCACGGCCTCAGAGGAGGCCCTGGCCTCCTCTGAGCTTCAGCATGAGGCTTGGCACATGACTGGGTGGGGGGGGGAGCGGTGGCAAACTGGAGGAACCCAACTTCACGTTTGGTGTCAGGGTGTCAGGGCCCCCGGACACCCCAGGCTGACTCCCTCCCCCTCCCCCGCAG
Seq C2 exon
TATGGCATCGTCCTGGACGCTGGTTCTTCACACACGTCCATGTTTATCTACAAGTGGCCGGCAGACAAGGAGAACGACACAGGCATTGTGGGCCAGCACAGCTCCTGTGATGTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000054179:ENST00000355097:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.075
Domain overlap (PFAM):
C1:
PF0115012=GDA1_CD39=PU(2.3=20.5)
A:
NA
C2:
PF0115012=GDA1_CD39=FE(11.0=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:
CTCTCCGGGTCCACGCATC
R:
CTGGAACATCACAGGAGCTGT
Band lengths:
278-1810
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