Special

HsaINT0128563 @ hg38

Intron Retention

Gene
ENSG00000032444 | PNPLA6
Description
patatin like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:HGNC:16268]
Coordinates
chr19:7541984-7542670:+
Coord C1 exon
chr19:7541984-7542067
Coord A exon
chr19:7542068-7542560
Coord C2 exon
chr19:7542561-7542670
Length
493 bp
Sequences
Splice sites
5' ss Seq
CAGGTTTGG
5' ss Score
5.63
3' ss Seq
GCCCCCCTGCCTGCCTGCAGGCT
3' ss Score
10
Exon sequences
Seq C1 exon
GGGACCCTGTGAAGCCCACATCCCTGGAAACCCCCTCGGCCCCTCTGCTGAGCCGCTGCGTCTCCATGCCAGGGGACATCTCAG
Seq A exon
GTTTGGAGCACTGGGTCTGCGGGGAGGGCCATGGAGCTTCCAGGTTTGAATCCAGGTCCACCGCCTGCCTGTCTTGATTGTTTTAATCTGCGAAATGGGAACACTGCCAGTACTTCCCCAGGCACTGTTTTGTAGATATTCATTGAGATAGTGCTTCTCCCACCTGTTAAGAGGGATTCAGAGGGAGAGTGCAGGCGTTGATTAGTCATGTCTGCTACAGCAGTGGCCCATGGCACATTGGTATCCATTGGTCTCAGACTGCAACTGTGGTTACTCTCATCTTTTTCTTTTCTTTTGAGACCTGTCTCCCAGGCTAGAGTGCAGTGGTGCTGTCATAGCTCACTGCAGCCTCGAACTCCTATGCTCAAGTGATCCTCCAGCCCCAGCCTCCCAAATAGCTGGAACTACAGGCCTGCACCACTACACCTGGCTCATTTTTTAAAAATCTTACTCTCATCTTTATGGTTTTTGTTGCCCCCCTGCCTGCCTGCAG
Seq C2 exon
GCTTGCAGGGTGGCCCCCGCTCCGACTTCGACATGGCCTATGAGCGTGGCCGGATCTCCGTGTCCCTGCAGGAAGAGGCCTCCGGGGGGTCCCTGGCAGCCCCCGCTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444:ENST00000221249:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.993 A=NA C2=0.982
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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