HsaINT0128579 @ hg38
Intron Retention
Gene
ENSG00000032444 | PNPLA6
Description
patatin like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:HGNC:16268]
Coordinates
chr19:7556655-7557284:+
Coord C1 exon
chr19:7556655-7556724
Coord A exon
chr19:7556725-7557167
Coord C2 exon
chr19:7557168-7557284
Length
443 bp
Sequences
Splice sites
5' ss Seq
ATGGTGGGT
5' ss Score
6.18
3' ss Seq
CTGTGTGTCCCACCGCGCAGGCT
3' ss Score
8.24
Exon sequences
Seq C1 exon
GACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATG
Seq A exon
GTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAG
Seq C2 exon
GCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444:ENST00000221249:29
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:
PF0173417=Patatin=FE(13.8=100)
A:
NA
C2:
PF0173417=Patatin=FE(23.4=100)
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:
GACCTGTGGCTGCCTTACTTC
R:
GCAGATTGTTGATGTAGCCGC
Band lengths:
184-627
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