HsaINT0128617 @ hg38
Intron Retention
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137462179-137462833:-
Coord C1 exon
chr9:137462685-137462833
Coord A exon
chr9:137462332-137462684
Coord C2 exon
chr9:137462179-137462331
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:ENST00000406427:30
Average complexity
IR
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
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