Special

HsaINT0128621 @ hg19

Intron Retention

Gene
ENSG00000130653 | PNPLA7
Description
patatin-like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:24768]
Coordinates
chr9:140355086-140356072:-
Coord C1 exon
chr9:140355988-140356072
Coord A exon
chr9:140355190-140355987
Coord C2 exon
chr9:140355086-140355189
Length
798 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
3' ss Seq
AGCCCTACCCTCGGTGCCAGACG
3' ss Score
3.28
Exon sequences
Seq C1 exon
GTCCTCACCTGTCCCAACGCCTCCTTCACGGACCTTGCCGAAATTGTGTCTCGCATTGAGCCCGCCAAGCCCGCCATGGTGGATG
Seq A exon
GTGAGTGGAGGCGCAAGACGAAGCCGTGGAGACGTGCGTGACCTCCTGATGCTGTGTTGGGCTTGAACCCCCCCACCCCAGAGGCCCACGGCCTCCCCTCCCGCCCACGTCCACGCCCAGGCTCCAGCAGCTGGGGTGCTTGGTGGCACTCCTCCGTCCCGGGCACCACGTGTTCCCACAGCAGTGGGACTGTGACCACCCCGGGTCACCCAGCCCCTGCCCTTCATTCACCTCAACTCCCAGCCACACCTCAGGCCTGAAGTAGAACCACGTTTTGCCTCCCACCCCACCCAGTGGGAAATGGGAATGAAGGCTGCTTGTTGGAGGGGCCGCAGGACAAGAAGGGCGGGTCCACTACCCTCCATGCTCCATCCAGGGCCCTGCGCTTGGGCCTTCAGCCAGTGGCCTCCTCACAGCAGAACTGGACATTCTCCTGGGAGACGTCTTCATGGCTGCCGCAGGCCGAGAGGGCCCTGGGCAAGGCAGCCCCTATCCACAGTTGCCAGGTCTGGGGTGCTGGAGCCCTCAGGGTGCTTGGCTGACAAGGGGAGGAGTGTCTGCCCGCTCCTTGTCCTTGTGGAAGACCCACGAAGTGATGTGCTGGGGCAAAGCTGGAGCCAGACAGAACCAGGGGTGGTGTGCAGGGCTGCCCTGGGACCAGGTGGCTGCGTGTAGGGCCCCGGGCCACCTTGGAGGCGGGGGTGGGCATCTGTGGCCGGTTCTGCCTCTGAGTGTGGCTATGCTGGGTACGGTCCCTTCCTTGGGAGGGGACTGACGCAGCCCTACCCTCGGTGCCAG
Seq C2 exon
ACGAATCTGACTACCAGACGGAGTACGAGGAGGAGCTGCTGGACGTCCCCAGGGATGCATACGCAGACTTCCAGAGCACCTCAGCCCAGCAGGGCTCAGACTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653-PNPLA7:NM_152286:32
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.193 A=NA C2=0.722
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCACCTGTCCCAACGCCTC
R:
CAAGTCTGAGCCCTGCTGG
Band lengths:
186-984
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