HsaINT0128574 @ hg38
Intron Retention
Gene
ENSG00000032444 | PNPLA6
Description
patatin like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:HGNC:16268]
Coordinates
chr19:7554555-7555075:+
Coord C1 exon
chr19:7554555-7554723
Coord A exon
chr19:7554724-7554892
Coord C2 exon
chr19:7554893-7555075
Length
169 bp
Sequences
Splice sites
5' ss Seq
CAGGTCGGA
5' ss Score
5.59
3' ss Seq
CAGCCGTCCGTATTCCGCAGCTG
3' ss Score
8.21
Exon sequences
Seq C1 exon
CATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAG
Seq A exon
GTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAG
Seq C2 exon
CTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444:ENST00000221249:24
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:
CAGGAGGATGCACACCGTATC
R:
CCAGCTGCGCATATTTAGCCA
Band lengths:
249-418
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