HsaEX0048759 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137484587-137493082:-
Coord C1 exon
chr9:137493013-137493082
Coord A exon
chr9:137489137-137489340
Coord C2 exon
chr9:137484587-137484736
Length
204 bp
Sequences
Splice sites
3' ss Seq
TAGTGTGCTTGTATTCACAGGGC
3' ss Score
6.33
5' ss Seq
GAGGTGGGG
5' ss Score
4.41
Exon sequences
Seq C1 exon
GTGGTGACTCGGCTGATTCATCTCTTGGGTGAGAAGATCCTGGGCAGCCTCCAGCAGGGACCTGTGACAG
Seq A exon
GGCATGTCCTGGCCAACGTTTGTGGAGTGTGGTTTGAACGTGAACTGACCCTGGTCTGCCTACTAGGTGCTGCCCAGGCCCAGTGTGAAGGCTGCATTCTGCGCCATCTTCAGCTCTCAGACCCGAACACCTGACCCTGGCACAGGCTGCGTCTTCATTACAGATTCGAGGCTTTCTTGATCTCCTACCTCTAGTTGGCAGGAG
Seq C2 exon
GCCACCAGCTTGGGCTCCCCACGGAGGGCAGCAAGTGGGACTTGGGGAACCCGGCTGTCAACCTGTCCACGGTGGCAGTGATGCCCGTGTCAGAGGAAGTGCCCCTCACCGCCTTCGCCCTGGAGCTGGAGCATGCCCTCAGCGCCATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653_MULTIEX4-11/12=9-C2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.052 A=0.000 C2=0.090
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000406427fB5345
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGTGACTCGGCTGATTCAT
R:
CGATGGCGCTGAGGGCAT
Band lengths:
220-424
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development