Special

HsaINT0128579 @ hg19

Intron Retention

Gene
ENSG00000032444 | PNPLA6
Description
patatin-like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:16268]
Coordinates
chr19:7621541-7622170:+
Coord C1 exon
chr19:7621541-7621610
Coord A exon
chr19:7621611-7622053
Coord C2 exon
chr19:7622054-7622170
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-PNPLA6:NM_001166114:26
Average complexity
IR-S
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
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