HsaINT0128609 @ hg38
Intron Retention
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137480312-137481023:-
Coord C1 exon
chr9:137480960-137481023
Coord A exon
chr9:137480481-137480959
Coord C2 exon
chr9:137480312-137480480
Length
479 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCGT
5' ss Score
9.73
3' ss Seq
ACTCCCTCTGCGTGCTGCAGTGT
3' ss Score
6.08
Exon sequences
Seq C1 exon
GCCCGACCCTGCTGCTGACTAGTGACAACATAAAACGGCGCCTTGGCTCCGCTGCCCTGGACAG
Seq A exon
GTGCGTGCCGCCAGCCCCGACTCCTTCCTCCCAGCCGGCCCAACGCAGCCCTGAGATGTGTCCCCACTGTGTCCACATCCAGCATCTGCACTGCAGCGTGCTCCTCGTCCAGCACACTGTGGTGTGAGGGCTGATGACGTGACTCCCTTCACTGGACACACTGGGCAGCGCTGACCTGCTGGGCACTGTCAGGCCTCCCAGGGGACCCCAGCCCCCGCTTCCCGCCTGGGCAGCCCCGGGTCTCACTCTCCCCAGCCTGCCCCTCAACGAGCCTCAGCCTCTGGGCTTAACTGCAGCCTCTGCGTGACTGCCTAGGCCCTGAATAACTCACTGCGAACTAGCGATGGCAGGAAGTGCTGGGCAGGGAGGGGAAGGGGCAGCGGCTGGTGCTGGCCTCTGCTGCCTCTTTGCCCCGGGGACATGTGCTAAGAGTGCCAGGCCCCTGCGGAGTAGTGAGGTACTCCCTCTGCGTGCTGCAG
Seq C2 exon
TGTTCACGAGTACCGGCTGTCCAGCTGGCTGGGGCAGCAGGAGGACACCCACAGGATCGTGCTCTACCAGGCAGATGGCACGCTCACACCCTGGACCCAGCGCTGCGTGCGCCAGGCCGACTGCATCCTCATCGTGGGCCTGGGTGACCAGGAGCCCACAGTGGGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653:ENST00000406427:22
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:
NO
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:
GACCCTGCTGCTGACTAGTGA
R:
CACTGTGGGCTCCTGGTCA
Band lengths:
223-702
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