HsaINT0128611 @ hg38
Intron Retention
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137478034-137479238:-
Coord C1 exon
chr9:137479056-137479238
Coord A exon
chr9:137478153-137479055
Coord C2 exon
chr9:137478034-137478152
Length
903 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGG
5' ss Score
8.3
3' ss Seq
CCTGACGGCTCCTCCCCCAGGTG
3' ss Score
9.69
Exon sequences
Seq C1 exon
CTGGAGCGGATGCTGGAGAGCACAGCTGTGCGTGCCCAGAAGCAGCTGATCCTGCTGCACAGGGAGGAGGGCCCGGCGCCAGCGCGCACCGTGGAGTGGCTCAACATGCGGAGCTGGTGCTCCGGCCACCTGCACCTCTGCTGCCCGCGCCGCGTCTTCTCCAGGAGGAGCCTGCCCAAGCTG
Seq A exon
GTGAGGCGGGGAGAGGAGGCTGCCTGCCCGTGGCTCCGTGGTTCATTTCCTCGAACGTTCGAAGCATTCTTCACATTCCCCACCTGATTCCCTGACACCTGCGCTCCTGGGCCCTTCCTGTGCTTGTGAACGTGACCCTGCCTCACGTCTCCTTCATCTTGCCCTTTGGGCCTCTGGTGGCCACGGCTAGGAAGCAGCCGGTGCAGTGGGGGCAGGCACAGGGCGGCCATCGGGCTGGGGGCTCAGCGAACCCCGGGGATGGGCCTGAATCAGGGGGCTCAGCAAACCCTGGGGATGGGCCTGACGTCAGGGGGGCTCAGTGAACCCTGGGGGATGGGCCTCATGTCAGGGCTGCTCAGGGCTGAGGCTGAGGCCCCCACATCCAGCTGATGAGGGTGTCCTCAGGCCAGCGCTGCTCCCTCCTTTGGGCAGAAGGCCCTGAGACTTTTAATTCCGGTGTCCTCAGGCAGCCCAGGGGCCTGAGAGTGAGGGGTGTGGGGAGTCTGCTCATGCTCACGGCCCCCAGCCCACAGCTCTGTCCAGAAACCCACGCCCTGAAGGCACCATCTGCTGCAGGATAGAGGGACCCCAGTGGGAACAGCTCTGAGGATGCCTTCTGGCCCCCCACCCGGGCCCACTCTCTGGCCCCCCACCCGGGCCCACTCTCTTGCCCACGTACCCTCTGCCAGTGTCCTCCCCCCAGTAGCTGAGCTGTCTCTGGGGCCCGGTCCGGGCACTGAGGTGCTGACCAGTCGTATCAGGCAGGGCCTGCTGCATGCTGGAGAGGATTTGGGGTCAGTTTGGGTCAGAAGTGGAGGAAACTCCCCCCAGTCAAGCCAGGATGCGAGGTCTCGGCCGAGGGTGGGGCCCTGCACCAGCCCTGCCTGACGGCTCCTCCCCCAG
Seq C2 exon
GTGGAGATGTACAAGCATGTCTTCCAGCGGCCCCCGGACCGACACTCAGACTTCTCCCGCCTGGCGAGGGTGCTGACGGGCAACGCCATTGCCCTGGTGCTTGGGGGAGGGGGAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653:ENST00000406427:24
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:
NO
A:
NA
C2:
PF0173417=Patatin=PU(4.8=20.0)
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:
GCTGGAGAGCACAGCTGTG
R:
TTGCTCCCCCTCCCCCAA
Band lengths:
290-1193
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development