Special

HsaINT0128617 @ hg19

Intron Retention

Gene
ENSG00000130653 | PNPLA7
Description
patatin-like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:24768]
Coordinates
chr9:140356631-140357285:-
Coord C1 exon
chr9:140357137-140357285
Coord A exon
chr9:140356784-140357136
Coord C2 exon
chr9:140356631-140356783
Length
353 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGG
5' ss Score
5.87
3' ss Seq
GGCGGCTGTGACGGCAGCAGGTG
3' ss Score
0.4
Exon sequences
Seq C1 exon
CGGATGTGGCCCGGTCCATGGGGGCAAAAGTGGTGATCGCCATTGACGTGGGCAGCCGAGATGAGACGGACCTCACCAACTATGGGGATGCGCTGTCTGGGTGGTGGCTGCTGTGGAAACGCTGGAACCCCTTGGCCACGAAAGTCAAG
Seq A exon
GTGGGGTGCTACCGGGCAGGCTGGGCTGTCCCTGCTGCTCCTCCCTGCAGCTCCACACCTGTCCTGCGGCAGGGGAGTGGGGGTCGCTCCTGGGCTCTGAGGCCAGCAGGTCTGGGGCCACCCCTCACCACCCCTGCCTGAGCCCAACTCGGGCGAAGGAAGGCACGAGGCCGGACGGGCCTGAAGGCTGTGGCAGCCCGCAGGGAGGACCCCCGGCCGGGTGCTGCTACCCTCTCCCCCCAGAACCTACCTACCCCAGAGGATGGGTCCCCAGAACCTGTCCTGCGCCACGGGCCAGGCTGGGACGGGGTAGGGGCCGGGGCAGGAGACTCAGGCGGCTGTGACGGCAGCAG
Seq C2 exon
GTGTTGAACATGGCAGAGATTCAGACGCGCCTGGCCTACGTGTGTTGCGTGCGGCAGCTGGAGGTGGTGAAGAGCAGTGACTACTGCGAGTACCTGCGCCCCCCCATCGACAGCTACAGCACCCTGGACTTCGGCAAGTTCAACGAGATCTGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653-PNPLA7:NM_152286:29
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:
PF0173417=Patatin=PD(2.4=8.0)
A:
NA
C2:
NO


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:
GGATGTGGCCCGGTCCAT
R:
TCGTTGAACTTGCCGAAGTCC
Band lengths:
294-647
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