Special

HsaEX6092439 @ hg19

Exon Skipping

Gene
ENSG00000032444 | PNPLA6
Description
patatin-like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:16268]
Coordinates
chr19:7622054-7625650:+
Coord C1 exon
chr19:7622054-7622170
Coord A exon
chr19:7623736-7624037
Coord C2 exon
chr19:7625534-7625650
Length
302 bp
Sequences
Splice sites
3' ss Seq
TGACCCCCCTGGCCCCACAGCGG
3' ss Score
8.86
5' ss Seq
TATGTGAGT
5' ss Score
5.56
Exon sequences
Seq C1 exon
GCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAG
Seq A exon
CGGACATCGCCCGCAGCATGGGTGCCAAAACGGTCATCGCCATTGACGTGGGGAGCCAGGATGAGACGGACCTCAGCACCTACGGGGACAGCCTGTCCGGCTGGTGGCTGCTGTGGAAGCGGCTGAATCCCTGGGCTGACAAGGTAAAGGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTAT
Seq C2 exon
GATGTGGGCTACCAGTACGGGAAGGCGGTGTTTGGAGGCTGGAGCCGTGGCAACGTCATTGAGAAAATGCTCACAGACCGGCGGTCTACAGACCTTAATGAGAGCCGCCGTGCAGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444-'33-36,'33-35,35-36=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.103
Domain overlap (PFAM):

C1:
PF0173417=Patatin=FE(23.4=100)
A:
PF0173417=Patatin=PD(2.4=4.0)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CATGACGCTGTCGGGCTAC
R:
GGCGGCTCTCATTAAGGTCTG
Band lengths:
198-500
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains