Special

HsaINT0128622 @ hg38

Intron Retention

Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137459953-137460737:-
Coord C1 exon
chr9:137460634-137460737
Coord A exon
chr9:137460477-137460633
Coord C2 exon
chr9:137459953-137460476
Length
157 bp
Sequences
Splice sites
5' ss Seq
TTGGTGAGG
5' ss Score
6.9
3' ss Seq
AACATGCGGTCTGCTTGCAGGAG
3' ss Score
8.27
Exon sequences
Seq C1 exon
ACGAATCTGACTACCAGACGGAGTACGAGGAGGAGCTGCTGGACGTCCCCAGGGATGCATACGCAGACTTCCAGAGCACCTCAGCCCAGCAGGGCTCAGACTTG
Seq A exon
GTGAGGAGCTGGGCATGGTCCCACCTGGTGCCCACAGCTGAGCCTTGGTGCCTGGCCCTGTGCCGGCCACTCCCTCCCTGTGGTCCCACCGGGTTACCAGCGCTGCAGAGCCCCTGCCCTGCCTGGTCCTCACCTGGAACATGCGGTCTGCTTGCAG
Seq C2 exon
GAGGACGAGTCCTCACTGCGGCATCGACACCCCAGTCTGGCTTTCCCAAAACTGTCTGAGGGCTCCTCTGACCAGGACGGGTAGAGGCCTCTGCTAAAGAGCCCGGATGCAGCGTCTTCCGTGGGACTGTCCCCAAGGCTGAGGCTCCTGCCAAGTCCTAGGGGCCTCTGTACCTGCCCTGCTGGAAGCCCTGACTTCCCCGGGGCCCCAGGCTGTGTTAGGGTTCTCTGGGCCTCTTCTTTGTACCAGCAGCCCTGCATACAGGGCCCTGTGAGCCCCCCTGCAGTCCTGTGAGGCCCCTGAAGCTCTGTGAGGCCCCTGAAGCTCTGTGAACCCCCTGCAGCCCTGTGAGGCCCCCCGAAGCCCTGTGAGGCCCCCCGAAGCCCTGTGAACCACCTGCTGCCCTGTGAGGCCCCCAAAGCCCTGTGAACTGCCTGCTGTCCTGTGAACTGCCTGCTGCCCTGTGAGGTGTGGGAGCCCTGATGCTGCCGTGTGATGTTTCAATAAAGGTGGATCTCACTGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653:ENST00000406427:34
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.810 A=NA C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTACGAGGAGGAGCTGCTG
R:
AGGTACAGAGGCCCCTAGGA
Band lengths:
258-415
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