Special

HsaINT0128611 @ hg19

Intron Retention

Gene
ENSG00000130653 | PNPLA7
Description
patatin-like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:24768]
Coordinates
chr9:140372486-140373690:-
Coord C1 exon
chr9:140373508-140373690
Coord A exon
chr9:140372605-140373507
Coord C2 exon
chr9:140372486-140372604
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-PNPLA7:NM_152286:23
Average complexity
IR-S
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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