Special

HsaINT0128601 @ hg19

Intron Retention

Gene
ENSG00000130653 | PNPLA7
Description
patatin-like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:24768]
Coordinates
chr9:140395143-140396179:-
Coord C1 exon
chr9:140396102-140396179
Coord A exon
chr9:140395349-140396101
Coord C2 exon
chr9:140395143-140395348
Length
753 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
3' ss Seq
TGAGCCCTCTCGTGTGTCAGGAC
3' ss Score
7.11
Exon sequences
Seq C1 exon
GACTCATCTCTGTTGGATGGCCGGGTGGCGCTTCTGCACGTTCCTGCAGGCACGGTGGTGTCAAGGCAGGGAGACCAG
Seq A exon
GTGAGCGGGGGTCTGGGGGGGGGCACTGGGACCACCCAATGCCATAGCCCAGTGCCAAGTGGAGCACCAGAGGAGGGCCTGGACTGGACACCAGTGACTGGGGACCTCCCAGCACCGGGCCACTGCCCCTCTGGGCACCATGGCAGAGCCCCTCCCCTCAGGCAGCCCTGAGCCCTGAGAGCTGTGTCCACCTTTGGCCCCTGCTGCACTGGCCCTTCTGCTCGCACCTGAGAGTGGGCCGGGCAAGCAGATTGGGAAGAGGTCATAAGAGGTCACAGTGGATACAGATCAGTGGAAGTGGCCTTGGAGTGGTTTCATGGGTACATCTGCAGATGTGGGACCAAAACGCGTGGCGTGTGCCGGGGGCTCAGTGTGGGAGGGGCCAGGAGCCCACCCCTCAGAGGCCAGGCCCCAGGCGAGGCGGCATGGGACCCCCCGTGCACAGGAATGCTGGGCTGACGCGCATTTGCCAGGGACAGTCAGTATGCGGGTGCCGGGAGGGAAGGTGTGCAGGTCCGAGGCCCGGCTCGCTGCACGGAGCCCTTGAGAACCCAGATTTTCCACGACTGCTCGTGAAATCATGAAACCGTAGACGCTGCCGAAATGTTTCCAGTGAAGTCCATGCCCAGAGCTGATCAGGTCGGCGGATGGTCTCCCGGCTGAGCCTGGTGGCATCGTCCGCTCTGGGCCCAGAGCTGCCCCCGTCCTGCCCGCGGCCACTCGCGGCGCCTCCTGAGCCCTCTCGTGTGTCAG
Seq C2 exon
GACGCCAGCATCCTGTTCGTGGTCTCGGGGCTGCTGCACGTGTACCAGCGGAAGATCGGCAGCCAGGAGGACACCTGCTTGTTCCTCACGCGCCCCGGGGAGATGGTGGGCCAGCTGGCCGTGCTCACCGGGGAGCCTCTCATCTTCACCGTCAAGGCCAACAGGGACTGCAGCTTCCTGTCCATCTCCAAGGCCCACTTCTATGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653-PNPLA7:NM_152286:14
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0002724=cNMP_binding=PU(16.3=57.7)
A:
NA
C2:
PF0002724=cNMP_binding=FE(73.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCATCTCTGTTGGATGGCCG
R:
AGAAGTGGGCCTTGGAGATGG
Band lengths:
278-1031
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