HsaINT0128616 @ hg38
Intron Retention
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137462685-137463531:-
Coord C1 exon
chr9:137463415-137463531
Coord A exon
chr9:137462834-137463414
Coord C2 exon
chr9:137462685-137462833
Length
581 bp
Sequences
Splice sites
5' ss Seq
CAGGTACTG
5' ss Score
9.04
3' ss Seq
CAGGGCTGGCTTCTCCCTAGCGG
3' ss Score
4.54
Exon sequences
Seq C1 exon
GCTCCCTGTGGTGGTACGTGCGTGCCAGCATGTCCCTGTCCGGTTACATGCCCCCTCTCTGTGACCCGAAGGACGGACACCTGCTGATGGACGGGGGCTACATCAACAACCTCCCAG
Seq A exon
GTACTGCGGTGGGGGGACCACGCCCGGCAGGAGCACAGGCTCCTGGGTCACGCCGCCCCACGGCCCCTGCCACAGCTGCCTCCGCTCCAAGAAGCCTGGGCTGGAACACGTTTTCCTTAGAGTATGCCAAGGGAAAATGTCAGGCTGGCATCAGAGCTCCGAGAACATGCACACGCGTGTACATGCACACGCAGGCACCGGCAGCATGTGCTCCAGCATATGGCCCTGTTTGTCAGCTCAGCAGCATGCAGAACAAAGGCCAAGTCGAGGAACTGGGAGCAATTAAGCCCCATCTGTGCCCACAGTCAGAAACTAACAGCCTGCAGGTGTCGAGCTTGCTGGGGGCCAGGCCAGGCCACTCCTGTCACCTGTGGGATATACGGTCAGAAAGGCCCAGGACACAGCCGTGTGCCCACAGCTGCCCATCGAGCTGGGCATGTGGGTCTTCTGCCTCTAGAAGGTGTAATGGCGGAGAGGAGACCCCACAACCCCCACGTCAGGGCTCGGAGAGGCAGGCTCTGCCCCCGTCCCCTGGCTCTGCATGCCTGTCCAGGGGGTAACCAGGGCTGGCTTCTCCCTAG
Seq C2 exon
CGGATGTGGCCCGGTCCATGGGGGCAAAAGTGGTGATCGCCATTGACGTGGGCAGCCGAGATGAGACGGACCTCACCAACTATGGGGATGCGCTGTCTGGGTGGTGGCTGCTGTGGAAACGCTGGAACCCCTTGGCCACGAAAGTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653:ENST00000406427:29
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=FE(23.4=100)
A:
NA
C2:
PF0173417=Patatin=PD(2.4=8.0)
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:
GCTCCCTGTGGTGGTACGT
R:
CTTGACTTTCGTGGCCAAGGG
Band lengths:
266-847
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