HsaINT0128621 @ hg38
Intron Retention
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137460634-137461620:-
Coord C1 exon
chr9:137461536-137461620
Coord A exon
chr9:137460738-137461535
Coord C2 exon
chr9:137460634-137460737
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:ENST00000406427:33
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.138 A=NA C2=0.810
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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