HsaEX6064312 @ hg38
Exon Skipping
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137521636-137540722:-
Coord C1 exon
chr9:137540642-137540722
Coord A exon
chr9:137522729-137522857
Coord C2 exon
chr9:137521636-137521716
Length
129 bp
Sequences
Splice sites
3' ss Seq
TGATGGAGCTGTTGTTACAGGGC
3' ss Score
2.75
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GACGGCACCGAGGTGGTGGTGAAAGAGGTTCTGGCGGGAGACAGCGTCCACAGCCTGCTCAGCATCCTGGACATCATCACC
Seq A exon
GGCCATGCTGCACCTTACAAAACGGTCTCCGTCCGCGCGGCCATCCCGTCCACCATCCTCCGGCTTCCAGCTGCGGCTTTTCATGGAGTTTTTGAGAAATATCCGGAAACTCTGGTGAGGGTGGTGCAG
Seq C2 exon
ATCATCATGGTGCGGCTGCAGAGGGTGACCTTTCTGGCTCTGCACAACTACCTCGGCCTGACCACAGAGCTCTTCAACGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653-'11-17,'11-16,16-17=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.005 A=0.002 C2=0.000
Domain overlap (PFAM):
C1:
PF0002724=cNMP_binding=PD(18.2=22.9)
A:
PF0002724=cNMP_binding=PD(35.7=81.4)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGAGGTGGTGGTGAAAGAGGT
R:
AGCGTTGAAGAGCTCTGTGGT
Band lengths:
154-283
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains