Special

HsaINT1047956 @ hg38

Intron Retention

Gene
ENSG00000032444 | PNPLA6
Description
patatin like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:HGNC:16268]
Coordinates
chr19:7535509-7536020:+
Coord C1 exon
chr19:7535509-7535577
Coord A exon
chr19:7535578-7535932
Coord C2 exon
chr19:7535933-7536020
Length
355 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGG
5' ss Score
9.33
3' ss Seq
CAGTGCCGTTCGTCCCTCAGGTG
3' ss Score
9.62
Exon sequences
Seq C1 exon
GACTCCGGGCTACCAGATCGGCCGTCCAGCTGGAATCAACCGATGGAGGCTCCGCTGCAAACTGGAATG
Seq A exon
GTAAGGGGTGGGGCGGAGACCGGGTAGGTGCCGGCGTGGGGCGCCAAGAGGACTACAACTCCCGGCGTGCTCAGCGCGCATTACGTGGTCTGGCGATAACGCGCTGCGTCCGCTCGGGCGGAACTACGTTTCCCGGCATGCACTGCGGGCCGCCGGGCCTCAGGGAAGAGTCGCGCCCCCGGGGAGGGAGCAGCACTGGCCCATTCTGCAGATGGGGACATCGAGTCACGGGCTGGCTACGAACTCCTCGGGGGCGAAGGTGGCGGAGAGGGATGGGTTCCAGGACGTCCTGGCGCCCGGGGAAGGCTCGGCGGGACGGATTTGCGGTGCGCAGCCAGTGCCGTTCGTCCCTCAG
Seq C2 exon
GTGCTTGGCGTGATGATCGGGGCCGGAGTGGCGGTGGTGGTCACGGCCGTGCTCATCCTCCTGGTGGTGCGGAGGCTGCGAGTGCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444:ENST00000221249:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=0.086 A=NA C2=0.030
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
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

  • Autistic and control brains