HsaINT0128601 @ hg38
Intron Retention
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137500691-137501727:-
Coord C1 exon
chr9:137501650-137501727
Coord A exon
chr9:137500897-137501649
Coord C2 exon
chr9:137500691-137500896
Length
753 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
3' ss Seq
TGAGCCCTCTCGTGTGTCAGGAC
3' ss Score
7.11
Exon sequences
Seq C1 exon
GACTCATCTCTGTTGGATGGCCGGGTGGCGCTTCTGCACGTTCCTGCAGGCACGGTGGTGTCAAGGCAGGGAGACCAG
Seq A exon
GTGAGCGGGGGTCTGGGGGGGGGCACTGGGACCACCCAATGCCATAGCCCAGTGCCAAGTGGAGCACCAGAGGAGGGCCTGGACTGGACACCAGTGACTGGGGACCTCCCAGCACCGGGCCACTGCCCCTCTGGGCACCATGGCAGAGCCCCTCCCCTCAGGCAGCCCTGAGCCCTGAGAGCTGTGTCCACCTTTGGCCCCTGCTGCACTGGCCCTTCTGCTCGCACCTGAGAGTGGGCCGGGCAAGCAGATTGGGAAGAGGTCATAAGAGGTCACAGTGGATACAGATCAGTGGAAGTGGCCTTGGAGTGGTTTCATGGGTACATCTGCAGATGTGGGACCAAAACGCGTGGCGTGTGCCGGGGGCTCAGTGTGGGAGGGGCCAGGAGCCCACCCCTCAGAGGCCAGGCCCCAGGCGAGGCGGCATGGGACCCCCCGTGCACAGGAATGCTGGGCTGACGCGCATTTGCCAGGGACAGTCAGTATGCGGGTGCCGGGAGGGAAGGTGTGCAGGTCCGAGGCCCGGCTCGCTGCACGGAGCCCTTGAGAACCCAGATTTTCCACGACTGCTCGTGAAATCATGAAACCGTAGACGCTGCCGAAATGTTTCCAGTGAAGTCCATGCCCAGAGCTGATCAGGTCGGCGGATGGTCTCCCGGCTGAGCCTGGTGGCATCGTCCGCTCTGGGCCCAGAGCTGCCCCCGTCCTGCCCGCGGCCACTCGCGGCGCCTCCTGAGCCCTCTCGTGTGTCAG
Seq C2 exon
GACGCCAGCATCCTGTTCGTGGTCTCGGGGCTGCTGCACGTGTACCAGCGGAAGATCGGCAGCCAGGAGGACACCTGCTTGTTCCTCACGCGCCCCGGGGAGATGGTGGGCCAGCTGGCCGTGCTCACCGGGGAGCCTCTCATCTTCACCGTCAAGGCCAACAGGGACTGCAGCTTCCTGTCCATCTCCAAGGCCCACTTCTATGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653:ENST00000406427:15
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:
PF0002724=cNMP_binding=PU(16.3=57.7)
A:
NA
C2:
PF0002724=cNMP_binding=FE(73.9=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:
CTCATCTCTGTTGGATGGCCG
R:
AGAAGTGGGCCTTGGAGATGG
Band lengths:
278-1031
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