Special

HsaINT0128570 @ hg19

Intron Retention

Gene
ENSG00000032444 | PNPLA6
Description
patatin-like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:16268]
Coordinates
chr19:7615880-7616323:+
Coord C1 exon
chr19:7615880-7615993
Coord A exon
chr19:7615994-7616247
Coord C2 exon
chr19:7616248-7616323
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-PNPLA6:NM_001166114:17
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.105 A=NA C2=0.013
Domain overlap (PFAM):

C1:
PF0002724=cNMP_binding=FE(40.7=100)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


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