HsaINT0128585 @ hg38
Intron Retention
Gene
ENSG00000032444 | PNPLA6
Description
patatin like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:HGNC:16268]
Coordinates
chr19:7561208-7561764:+
Coord C1 exon
chr19:7561208-7561317
Coord A exon
chr19:7561318-7561487
Coord C2 exon
chr19:7561488-7561764
Length
170 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGA
5' ss Score
7.23
3' ss Seq
TGTGTGACCTTCCCTCGCAGGAG
3' ss Score
10.51
Exon sequences
Seq C1 exon
GAGAGGAGTCAGATTGTCTGACAGAGTATGAGGAGGACGCCGGACCCGACTGCTCGAGGGATGAAGGGGGGTCCCCCGAGGGCGCAAGCCCCAGCACTGCCTCCGAGATG
Seq A exon
GTGAGAGTGGGTGGCCCAGGGTCCCCTCACATCCCCCAGAGGGTCATGAGTACAGTGTCAGGCAGGGGAGCCGGGGGCGTATTTGAGATCCTGTGTGTGCTGGGTGCTGGCTGACATGTGACGCATCAGTGTCCCGTGCTGGGTGACGTGTGTGTGACCTTCCCTCGCAG
Seq C2 exon
GAGGAGGAGAAGTCGATTCTCCGGCAACGACGCTGTCTGCCCCAGGAGCCGCCCGGCTCAGCCACAGATGCCTGAGGACCTCGACAGGGGTCACCCCCTCCCTCCCACCCCTGGACTGGGCTGGGGGTGGCCCCGTGGGGGTAGCTCACTCCCCCTCCTGCTGCTATGCCTGTGACCCCCGCGGCCCACACACTGGACTGACCTGCCCTGAGCGGGGATGCAGTGTTGCACTGATGACTTGACCAGCCCCTCCCCCAATAAACTCGCCTCTTGGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444:ENST00000221249:34
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.887 A=NA C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGAGTATGAGGAGGACGCC
R:
CAGGAGGGGGAGTGAGCTAC
Band lengths:
250-420
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