HsaINT0128610 @ hg38
Intron Retention
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137479056-137480480:-
Coord C1 exon
chr9:137480312-137480480
Coord A exon
chr9:137479239-137480311
Coord C2 exon
chr9:137479056-137479238
Length
1073 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
ACGTGGGCTCTGCCTTTCAGCTG
3' ss Score
8.36
Exon sequences
Seq C1 exon
TGTTCACGAGTACCGGCTGTCCAGCTGGCTGGGGCAGCAGGAGGACACCCACAGGATCGTGCTCTACCAGGCAGATGGCACGCTCACACCCTGGACCCAGCGCTGCGTGCGCCAGGCCGACTGCATCCTCATCGTGGGCCTGGGTGACCAGGAGCCCACAGTGGGCGAG
Seq A exon
GTGAGCACGGGGAGGGCCGGTGGAGCTGGGGAGAGCCCTCTCTTCAGAACCTCCTGTTTCTCTTTTCCTTTGAGTAAAATACTGCACAAACTCAGAAAAAGACAGATGATAAGAGCCAACACTCAGATATCTGCTACCCATGTTTTAAAAACACGGTGCTGTATTGACCTCCAGGGGTTCTAGCACGGAGCAGGGCAGGTGCCCCACGTGGCCTCTTGTGAAGCCGCAGCCTCCGGCCGCCTTTCGCACTTTTACAGCAGGTGCGGGAAGCCTTTTCCAGGACTAACCTTTTACGTAAACGGTGCCCTATTTTGTGTCATCTGAAGTTTGCTTTTCTCCACAGCACTTAGGTGTCGGCGTCGTTCCTGTTCCTCTCACTGCTTTTTCTGGCTGCTTAGTTTTCCTCTTGTGAATGCCTTACCCTCTGCCTCTGCATCCTCAGCCAACAGGAACAGCCTTCTGCAGGCACCTTCGGGACGCTGGCCCCAGGCTGTGTCTGCAGGTTCCCAGATGGCAGCAGATCACTGACCTGATTGCTTCCTTCCACCTGGCCATTGCTGCAGGCGAGGCCTCGGGCTCATGGCCACCCAGTCCTGTTCGTGTTCTCCAGCTTCCTGCCTTCAGTTTGCATTTCCCGTCTCCCTCCTCTGCTCCCTGCTCTGTTCTCATCACAAGCCTGCCTGGGCTAATCCTGGGGCAGCTAAAAATTCCTCCTCTCTGATGTATGTTCCTGTTCTGCAGCTAGTGATGCTCCCTTGTGAGAGTTTGTTTGCAAAATACCTCATTTGGAAAGGTTGCTGTGTGTGTTTATGAGGCAGTGTTAGAGAAACAGAAAGAGGAGGCGTCCCCCTCCTGCCGTACTGACCTTGCCCAGCACACAGTGGACGGATGGACCCCTGCCGTCAGAGCTTCGGCAGCGCCAAGGCAGACCAGGCCACAGCCAAGTTGCTTTGCAGAACCCAGGAGCTGCTCCCGGGGTCCTGCCCTCAGACCCTCTGTGCTGGCCTTCAGCTCCGTCCTGTCCCGAGTCCCAGGCTCACCCGGCTGGCAGACACGTGGGCTCTGCCTTTCAG
Seq C2 exon
CTGGAGCGGATGCTGGAGAGCACAGCTGTGCGTGCCCAGAAGCAGCTGATCCTGCTGCACAGGGAGGAGGGCCCGGCGCCAGCGCGCACCGTGGAGTGGCTCAACATGCGGAGCTGGTGCTCCGGCCACCTGCACCTCTGCTGCCCGCGCCGCGTCTTCTCCAGGAGGAGCCTGCCCAAGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653:ENST00000406427:23
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:
GTTCACGAGTACCGGCTGTC
R:
AGCTTGGGCAGGCTCCTC
Band lengths:
350-1423
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