Special

HsaINT0056487 @ hg19

Intron Retention

Gene
ENSG00000054179 | ENTPD2
Description
ectonucleoside triphosphate diphosphohydrolase 2 [Source:HGNC Symbol;Acc:3364]
Coordinates
chr9:139946683-139948505:-
Coord C1 exon
chr9:139948333-139948505
Coord A exon
chr9:139946801-139948332
Coord C2 exon
chr9:139946683-139946800
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
CCGGCTCCCCGCACTCTCCGGGTCCACGCATCGTCCTCCCGCGCGCCCGCCCGCCCATGGCCGGGAAGGTGCGGTCACTGCTGCCGCCGCTGCTGCTGGCCGCCGCGGGCCTCGCCGGCCTCCTACTGCTGTGCGTCCCCACCCGCGACGTCCGGGAGCCGCCCGCCCTCAAG
Seq A exon
GTGCGCGCCCGGGCACCCAGCGCACGTCTGGGGAGCAGCGGGCCGGGCTTGGAGCCGGGGAGGGGGTGCGGCTGGGAACCTGAGCAGGATCAGCCCGGGACCCCCACCGTGCTCTGCTCCTGGCGGGCTGGGTGGGGTCCCGGGTTCCGCGCTCTGCGCTCCCCGACCGGGTACGCGGAGGGGGCGGGGGGCGGTGGCGCTTCCAGGGCGACGCGGTGCTGAAGGAACAAGTCCCGGGAGTTCCGCGCCCGCCGCCGAGTCCGTCAACGCAGCCCAGGGGCTGTGTCCCCGCTCCCGGGATAGCCCAGCGATGCCCCCTGGGTGCTGCCGGACGCCCGCCCCCAGGCCTGTGCGGGCCCCCAGGGGCACTCCGGGCCACTTCTGCCCTGTGCCGCCGCCCCGGAGGGTGCGGTTAGAGCCACATCGACTGGGTATTCAGCCCAGATGGGGATCCACAAGCCCCAGGACCCAGGGCCCCCGCCAGGACACGAGAGTGGCCCAGAAAGACAGGAGGGCTTGACCGGAGCAGCCCTGGCCGGTCCTCAAAAGGTTGGAGCAGGCTAGCCTGGATCTCCACTCCAGCAGGCCCAGGGACCTCCTGGTCGGCCCCTTTAACCCTTTATTGGGCTTGTAGGGGGGTGGGGTGGAGAGCCAAGTCCCCCAGCCTGATGGGGAGTCAGAAGCAGGGAGCTCTGCGGCCCTGCAGGACGGCCATGTGGCGGTGCACGCGCTGACCTGTTGATGCTCTGGGCTCTGGGGAAGCCTTGGTCGGGATGGACTGGTGCGGCCCTCTCGGAGGCTGGAATTGGCGCCCGGGCCTGGGAGGCTGGTCCCCAGCTTTCCAGGTGGATCCAGGATGCTGGGGCAGGAGCTGGAAAAGGGCATTTACAAGCTCGTGCCACTCAGGTCTGCAGGAAGGCCCACCCAGCACCCCCAACAAGGCAGGGCCAGCCTCTCTCTCTGGCCCTGGCTTGGAGGCCTAGGGAGAGTGTCTTTAGAGCTGACCTGGCTCTGAGGCCCACGGCCAGCCTCGGTGGACCTTCTTCACCTGGGGCCCTGCCTCCTGCATCCTCAGGTTGGGCTGCCGTCAGAGGAGCTGGAAGGAGACAGAGGAGGAAGGAAGAGGGGAGGAAGGAAGAGGGACTCTAGGGAGCTCCTCTTGCAGAGGAGCTTCCTCTCCCTGAGCCTGGGAAACTTGTGCCCCAGGGAAAAGTCCCTGGGGACCCTCTGTCCCTCTGTCCCTGACTCAGTCCCTCAGTCTGCCCTTGCCAGGAAGGCTGCTGCCCAGACCCTGGCATGCTGGCTTCAGGTAGTCAGGAGGGAAGAGTCACCTCCCCACCACCTCCCTGTTCTCCTTCCAACCACGGCCTCAGAGGAGGCCCTGGCCTCCTCTGAGCTTCAGCATGAGGCTTGGCACATGACTGGGTGGGGGGGGGAGCGGTGGCAAACTGGAGGAACCCAACTTCACGTTTGGTGTCAGGGTGTCAGGGCCCCCGGACACCCCAGGCTGACTCCCTCCCCCTCCCCCGCAG
Seq C2 exon
TATGGCATCGTCCTGGACGCTGGTTCTTCACACACGTCCATGTTTATCTACAAGTGGCCGGCAGACAAGGAGAACGACACAGGCATTGTGGGCCAGCACAGCTCCTGTGATGTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000054179-ENTPD2:NM_001246:1
Average complexity
IR-S
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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