HsaINT0128573 @ hg38
Intron Retention
Gene
ENSG00000032444 | PNPLA6
Description
patatin like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:HGNC:16268]
Coordinates
chr19:7554209-7554723:+
Coord C1 exon
chr19:7554209-7554272
Coord A exon
chr19:7554273-7554554
Coord C2 exon
chr19:7554555-7554723
Length
282 bp
Sequences
Splice sites
5' ss Seq
TAGGTGTGT
5' ss Score
4.3
3' ss Seq
CTGCCCCCTTCCCACCCTAGCAT
3' ss Score
8.82
Exon sequences
Seq C1 exon
GTCCGACGCTACTCCTTAACAGTGACATCATCCGGGCACGCCTGGGGGCCTCCGCACTGGATAG
Seq A exon
GTGTGTGTTGCAGAAGGGAGTGGGGAGGGTGGTGGGTGGGCCTGGAGCCTCAAATTCTTTCAGACCTGAGTTCAAGTTCTTGGCTTCCAACCACGGAGCCTGCGTCTTACCCATAGGTCAATGGGGAGATTCGCAGTGGTGTGAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAG
Seq C2 exon
CATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444:ENST00000221249:23
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:
NO
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:
GTCCGACGCTACTCCTTAACA
R:
CGAGGGTAGGCTCCTGGTC
Band lengths:
228-510
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