HsaINT1027478 @ hg38
Intron Retention
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137547585-137550534:-
Coord C1 exon
chr9:137550168-137550534
Coord A exon
chr9:137547660-137550167
Coord C2 exon
chr9:137547585-137547659
Length
2508 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGT
5' ss Score
9.8
3' ss Seq
CCCCATGCTCTCTGCTGCAGGCT
3' ss Score
9.3
Exon sequences
Seq C1 exon
GCTGCCCCCATCCCCGCCGCGCTGGGCCTGGCTCCTCTTGACCTGCTTGGATACGCCCCATCTGGCTGCTGTTCTGGGTTCCGGGACAGCCACGTGAGGGCTGTTTACAGAGGGAAGGAGGTGGCTCCTAGCAGATGACAGACACTTCTCAAAAGACAGCTTTTCTTCCTGGAGAACAGACTTTTTCAGCAGGATTTTCCTTTCAGTGAAACATAATTTGACTTGAAAGGAACCCAGGGAAAAGTGTCCAGGTGTGAGCATGAGCGGGTAGAGGTGTGCCCTTGTTTGCTTCAGGCTGTCTGCTTTTCGCCCCTGACTGTTTTTTCTGTTTCTGGCCATGGAGGAAGAGAAAGATGACAGCCCACAG
Seq A exon
GTATGTAACTCGGGGGACCAGATGCCTGGATTTCCCAGTTGGGGGGCATTTCTGGACCCAGAGAAGGGTCCTCTTGGCGTCTGCTCTGCCGCGCTCTTTGGCCCCGTGGCTTCTTGGCGCCTGAGGACTGTGGGAGTGGTGGATCTGGCCCCTCTCTGCTGCCTGTCACAGCTGCCAGCACTTGTTAGACGCGCCTGTCACAGCAGACAGCCAGTGGTGGCCCATGGGCATTGTTCACAGCGAGGGCAGCCAGCGGTGGCCCATGGGCATTGCCTGAGGCCTTGTCTTTTCTTCCCCTAAGGTCACAGTTGCTACTTCCAGTTCCTTTAGGACTTTGCCTGATGGTTTTGCTTAGAACCTTTTTCTGTGTTTTTTTTTTTCCCAAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGTGTGCAATGGTGTGATCTTGGCTCACAGCAACCTCCGCCTCCTGGGTTCAGGCAATTCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGCACCACGCCCGGCTAATTTTTGTATTCTTAGTAGAAACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAAGCTGGATTGCAGTGGCACGATCTCAACTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATATTTTTTTGTATTTTCAGTAGAGACGGTGTTTCACTGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCAGGGATTACAGGCATGAGCCACCGTGCCCGGCCTAGTCTTGAACTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACACTGTGCCCAGCCCTAGAATCTTTTTCTTAGTCAAACATCTGTAGCCACATGGCAAAGGCCTTATTTCCTAAACCAGAACACTGGACCCATTAAAGCAACAGTGAAAAGCTAGAAAAGGCTGAGCCGCTCCACCGCAGGAGAGCCTGTGACCAGGTCACGGGCCATCGCGTGATAGGCCTTCCTTGGATAATCGGTCCCAGAAGCGGTTGCTGGGCTGAGGGACTCACTTCGCTTCCTTAAGTGAGGGACATGGTCGTAGGTGCTTCTCTGCTCCCCACCTGGTTGAGAGTGAGCGTAGGGGTTCCCCTGTCCTGAAGCAGAAGCTCCCAGGGCTTGTATTTGCTTCTGAACCAAGTTCGAAGGGCTCAGCTTTCTGGGCACGTCCTCATTCTGTCTTGGTGCAGAATTGTGTCTTTAAATGCGTTTCTGAGTGCTCTTCTGACTTCCCTGAGTTTTCTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCACAATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCACCACCACGCCCGGCTAATTTTTGAATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCGGCCCTTCCCTGGATTTTCTGGCACGGATGGGAGTCCTGCTCTCTGCAGTGAGGCGGGGGTGGGTGTTGTTTTAGGCCTTGGCTCTTGTGTAGAAACTTTCAGGCTGAACCAGTGGCTTCCCCTGCCCTATCCGGTTCCTGGCTGCCTGGGAGGAAGGTGTGATGCCAGCAGGAATGGAGAGGGCTGCCTGTCTGGCTGGTGTCGTCTTCTCGTCTTCTCGTTTTCTCTTTCACTTCTTGGAACCACCAGCGTCCTCTGCTGTCGTTCACTCACCATCCTGCCCTCACCCTCTCTTCCCTCCCTCCCGCGGACCTGGACTTCTGAAGTCCTGCTGCTCCAGGAGACTGCAGGACACAGAGCCTTCTCGGCCGCTGCCTCCTTGTTTGGCATGTGAACTGGTGTTGAATGTTCTCAGAATCCAGATGGCTCATAGGGGTTTTGAGCACTGCTCCTGCTGGGGCTGAGGCGACACTGAGAGGGGGGCCTTGGCCTCCCCTTTGGCCAGGCCTGCTCCCTGAGACCTGCATCCCAAGGATTGCATCACCAGCATGTGGGTGTGTTAGTGATGCCTGGGGCAGCCGCTGGCCCTGCCCCACTGTATCCCAGTGACTGAGGGAGCCAGGTTGCTCTCTGAGTGCTTCCTAGCAGGGGGCTCAGAGGACCCCGGCACCCCGGGCGAGATCACTTCTTCCCAGAAGTCTCCAGGGCTGCTGACTTCTCCCCTAACTCCCAGCTCTCCTCCTGCTGCTCTGAACAAGTTCGGGCTGGGAAGCCTGTCCATGCCCACCTGACCCCATGCTCTCTGCTGCAG
Seq C2 exon
GCTGACTTCTGCCTGGGCACCGCCCTGCACTCTTGGGGACTGTGGTTCACGGAGGAAGGTTCACCGTCCACCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653:ENST00000406427:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.403 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF094725=MtrF=PU(22.6=28.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains