Special

HsaINT0128615 @ hg19

Intron Retention

Gene
ENSG00000130653 | PNPLA7
Description
patatin-like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:24768]
Coordinates
chr9:140357867-140358647:-
Coord C1 exon
chr9:140358578-140358647
Coord A exon
chr9:140357984-140358577
Coord C2 exon
chr9:140357867-140357983
Length
594 bp
Sequences
Splice sites
5' ss Seq
ACGGTGAGC
5' ss Score
9.44
3' ss Seq
GCTCCGGGCCCCCTCCCCAGGCT
3' ss Score
6.96
Exon sequences
Seq C1 exon
GACCTGTGGATTCCTTATTTCGCCATCACCACCGACATCACAGCCTCGGCCATGCGGGTCCACACCGACG
Seq A exon
GTGAGCACTCCTGCTGCGCAGGGCGGCCGCTTGGGTGCGAGGTGTGGGCAGGGGGAGAGCTCAGCAGCCCCAGGGGTTGGGAAGGCCGCGGGGTCTCCTGAAGGATGCAGACGTATGGGCAGCTTTGTCCATGGAGGACACAGGATGCCCCTACTAGGGGCACAGACAGGAGGGGGCGTGGCCTGGGCCAGAGACCTCAGAAGGCTGGAGGAGACCCTCACAGAATCAGCAATGTTGGGCTAGACTGATGGATACCATGTGAGAGGACAAAGTGAGGGGCTCCCTGAGTCCTGGGGTGAGGGGCTCACCTGGTTCAGGGGGATGAGGGGTTCACTCGGTCATGGGGTGAGGGGCTCCCTCAGTCCTGGGGTGAGGGGGTCACAGCAGTTCGAAGTCCTGGGCACATGTAATGCAGTGCGACCCCAGAGAAAGAACTCAATTTTGTTCAGCCCTTGGGCCATGAGCTTCCCTCTGTGGAGGCGGCCTCAGAGAGTTGGGACCTACCAGCTCCAGGACTGCAGTGGCAAGGCCCTGAACCCTGGACCCAGGAGGAGCCTCCTCCGGGTAACCAGCAGCTCCGGGCCCCCTCCCCAG
Seq C2 exon
GCTCCCTGTGGTGGTACGTGCGTGCCAGCATGTCCCTGTCCGGTTACATGCCCCCTCTCTGTGACCCGAAGGACGGACACCTGCTGATGGACGGGGGCTACATCAACAACCTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653-PNPLA7:NM_152286:27
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:
PF0173417=Patatin=FE(13.8=100)
A:
NA
C2:
PF0173417=Patatin=FE(23.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTGTGGATTCCTTATTTCGCC
R:
GAGGTTGTTGATGTAGCCCCC
Band lengths:
182-776
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