HsaINT0128615 @ hg38
Intron Retention
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137463415-137464195:-
Coord C1 exon
chr9:137464126-137464195
Coord A exon
chr9:137463532-137464125
Coord C2 exon
chr9:137463415-137463531
Length
594 bp
Sequences
Splice sites
5' ss Seq
ACGGTGAGC
5' ss Score
9.44
3' ss Seq
GCTCCGGGCCCCCTCCCCAGGCT
3' ss Score
6.96
Exon sequences
Seq C1 exon
GACCTGTGGATTCCTTATTTCGCCATCACCACCGACATCACAGCCTCGGCCATGCGGGTCCACACCGACG
Seq A exon
GTGAGCACTCCTGCTGCGCAGGGCGGCCGCTTGGGTGCGAGGTGTGGGCAGGGGGAGAGCTCAGCAGCCCCAGGGGTTGGGAAGGCCGCGGGGTCTCCTGAAGGATGCAGACGTATGGGCAGCTTTGTCCATGGAGGACACAGGATGCCCCTACTAGGGGCACAGACAGGAGGGGGCGTGGCCTGGGCCAGAGACCTCAGAAGGCTGGAGGAGACCCTCACAGAATCAGCAATGTTGGGCTAGACTGATGGATACCATGTGAGAGGACAAAGTGAGGGGCTCCCTGAGTCCTGGGGTGAGGGGCTCACCTGGTTCAGGGGGATGAGGGGTTCACTCGGTCATGGGGTGAGGGGCTCCCTCAGTCCTGGGGTGAGGGGGTCACAGCAGTTCGAAGTCCTGGGCACATGTAATGCAGTGCGACCCCAGAGAAAGAACTCAATTTTGTTCAGCCCTTGGGCCATGAGCTTCCCTCTGTGGAGGCGGCCTCAGAGAGTTGGGACCTACCAGCTCCAGGACTGCAGTGGCAAGGCCCTGAACCCTGGACCCAGGAGGAGCCTCCTCCGGGTAACCAGCAGCTCCGGGCCCCCTCCCCAG
Seq C2 exon
GCTCCCTGTGGTGGTACGTGCGTGCCAGCATGTCCCTGTCCGGTTACATGCCCCCTCTCTGTGACCCGAAGGACGGACACCTGCTGATGGACGGGGGCTACATCAACAACCTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653:ENST00000406427:28
Average complexity
IR
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
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTGTGGATTCCTTATTTCGCC
R:
GAGGTTGTTGATGTAGCCCCC
Band lengths:
182-776
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