HsaINT0128570 @ hg38
Intron Retention
Gene
ENSG00000032444 | PNPLA6
Description
patatin like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:HGNC:16268]
Coordinates
chr19:7550994-7551437:+
Coord C1 exon
chr19:7550994-7551107
Coord A exon
chr19:7551108-7551361
Coord C2 exon
chr19:7551362-7551437
Length
254 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCGG
5' ss Score
9.13
3' ss Seq
CCGGCCTCCAACGCCCCCAGGTC
3' ss Score
7.85
Exon sequences
Seq C1 exon
GTGGAGGCACTGACCCGGCAGCCGCGAGCCACGACGGTGCACGCGGTGCGCGACACGGAGCTGGCCAAGCTTCCCGAGGGCACCTTGGGTCACATCAAACGCCGGTACCCGCAG
Seq A exon
GTGCGGCCTGTTGTGGGCGGGGCAGAGAGGCGGAGGCGGGACTCCGGGGGGGTGGGGGCCGGGCCTAGTGTGTGGGCGGGGCTTACAGAGGGGCGGGGTCGAGGGAGGGGCCGAAGCGAGAGAGTGAGGGCGGGGGCTCTCGGGGGTGGGACCCAGGTAACGGGCACCCAGGAGCCCCGGCATAGGAGGGAGAGGTGGGACCTGGACAGCCGCTTCCCAGGTCTCACTGAAATGCCGGCCTCCAACGCCCCCAG
Seq C2 exon
GTCGTGACCCGCCTTATCCACCTACTGAGCCAGAAAATTCTAGGGAATTTGCAGCAGCTGCAAGGACCCTTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444:ENST00000221249:20
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.105 A=NA C2=0.031
Domain overlap (PFAM):
C1:
PF0002724=cNMP_binding=FE(40.7=100)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGAGGCACTGACCCGG
R:
GGGAAGGGTCCTTGCAGCT
Band lengths:
188-442
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