Special

HsaINT0128608 @ hg38

Intron Retention

Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137480960-137484736:-
Coord C1 exon
chr9:137484587-137484736
Coord A exon
chr9:137481024-137484586
Coord C2 exon
chr9:137480960-137481023
Length
3563 bp
Sequences
Splice sites
5' ss Seq
TCGGTAAGC
5' ss Score
9.86
3' ss Seq
ACTGGTGGTGGTGTTTTCAGGCC
3' ss Score
7.02
Exon sequences
Seq C1 exon
GCCACCAGCTTGGGCTCCCCACGGAGGGCAGCAAGTGGGACTTGGGGAACCCGGCTGTCAACCTGTCCACGGTGGCAGTGATGCCCGTGTCAGAGGAAGTGCCCCTCACCGCCTTCGCCCTGGAGCTGGAGCATGCCCTCAGCGCCATCG
Seq A exon
GTAAGCCTGAGCCTCCCAGCCTCCAGCCATCCTTGGGTTCTGGGCCTGGTGGAGGGCGCCTGCCGGCTGCCCTCTGTCTTCGAGGGGACGCGGCGGTGGGTGGGCAGGGCTCAGTTGGGGTCAGTGTTCGGTAGTGTTTCCAAATTGCTGGCAGCTGTTAAATTTGGGGATTCAAGGGCAAGGAATTGAATTTCCTGAGAACTCTCAAAATTCTAAGTTATTCTATATTCTTTGCAACATTTTATTTACAAGTTTTCATGTGATGATAGGGACCATGATGATAGACAGGAAGTCAGTTTTCTGTGGGTTTAAGGTTATGCTAAAAATTTCAGTGTTGTCTTGGCAAAATAATGCAATAATAATGAATGCGGTCGGGCGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAGAAATACGAAAATTAGCTGGGCGTGGTGGTGCGCATCTGTAATCCCAGCTACTGGGGAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGATAGAGGTTGCAGTGAGCCAAGATCACACACCATTGCACTCCAGCCTGGGCGACAGAGCAAGATTCTGTCTCAAATAATAATAATAATAAATGCAATGAATGTTGTATAATTATTATAAAACAATATATTGTGACAAGAGTATTTCAGAACCATGTGAAAATGCTCCCTCCTGATACAGACATTTGGTAATAGAAAACAATACATTCAAAAAATTTATAATATAGAAAGATGCTACTATAAACATCGAATACTTATAAGTTATTCTCAGCCACGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCTAGACAAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGAAATGCCTGTAATCCCAGCTATGTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCTAGATCGCACCACTGCACTCCAGCGTGGGTGACAGAGCAAGACTCTATCTCAAAAATAAATAAATGAAAGTTACTCTCAAAACAAAATTTTAAAACACATAAAGCATGGATTGCCTTGTCTGATGGCCTTGACCGTCGTTACATGACACATATTCCCAGTATATGCAGAAAATCTTACTCATTTCCGGTGACATCAGTCAGAGTATTCCAGGTATGTCCAAAAACATCTTCGAGTTGTACGGTGGAGCTGTCCCGCGTCACATAAACTAGTTCCCTTTAGAAACATCTTCGAGTTGTGCGGTGGAGCTGTCCCACGTCACATAAATTAGTTCCCTTTAAAAAACACTTTTTAAGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTGGGGAGGCTGAGGTGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCGGCCTAGCCAATATGTTGAAACCCCGTCTCACTAAAAACACAAAAATTAGCCAGGCTTGTTGGCAGGCTCCTGTAGTCCCAGCTACCAGGGAGGCTGAGGCAGGAGAATCGCTTGACCCCGGGAAGTGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCGTGTCAAAACAAAAACAAACAAAAAACCCACTTTATTTTGAAATAATTATAGGATCGGAGAAATTGTGGAATAGTAAAGAGAGACCCCATGTGCCCTTCGCCAGGGCTCCTTCACGGGCAGCGCCTTAGGGGGTAACATCGAGGCCGGGACGTTGGCGTTTACGCCATCTGTAGACCCCTTGGGCCCCAGCAGCCCGTCCGTGCCCTCCTGGGTGTGTGTGGTGCAGTGTGGTGTGGGTGCCGTTTCTGTGACCTGCACCACACGGGGCCACTCTGTCACGGAGGAGACCCTGCAGGTGGCTGCCATGTTGTCACCCAGCACCCCGGCTTGCCGGCAGCCCTGGATCTGTTCTCGATCTCTATAATTTTGTCATTCTGAGAAAGTGATGGAAATGGAACCACACGGTGTAGCCTCTGCAGACGGCCTTCTCCCACTCAGTCACGTGCACGCAAAGTTCCTCCTGGCCTTTTCCTGGCCTGGAGCTCAGTTCTTTTTGGTGCTGAGTCATCGTCCGCTGCCTGGACGCACCACAGTTGATCTGTTCATCTACTGGAGGGCATTTGGCTGCTTCCAGGATTTGGCAATTATGAGTGAAGCTGCTGTAAACACCTGTGTGCGTGCTTCTGTGTGGACAGAGGTTTTCAGTTCCTTTGGGTAAACACCAAGGAGCATGATTGCTGGATCCTGTGGTCGGAGTATGTTTAGTTGTAGAAGAAACCACCAAGCTGACTTCCAGTGAGGCTGCACCAGGCTGCAGTCCCACAGCAGTGAGCAGGTTTCGGCTGCTGCACATCGCACCAGCATTGGGCTGGATTTTCAGCTCAGAGCTGTCTCTTGAGCCCAGGGGGCATTCTAGTTCAGTTGTAAGAGGGGCCCTTATTTTGTGTGCCTCTAAGAAACAAATGTTGCTAGTTAAGGCACGAGACACATTGATCTGATCTCTAGTTGTTGTTTTTTCTGAGATGGAGTCTTGCTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCACCTCCCGAGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGGATCTCCTGACCTCGTGATCCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCGATCTCTAGCTTTTAATTAGAATTAGACCTCCCTGCTTCCCACACATGGGGCTCTGGGTCCTTTCCCACCCGGCACTGCCAAGCAGCACCCCCTCAGGCTGAGCCCCTCATCTTAGCTTCTCCCCTGAGCCTCTGGTGGCTGTGATGCCAGGGCTGACACTGGCGCCCCTGGTTGAGAAGGGCCCTGACAGCCGTGCCCATGTGGAAGATGCATACGAACAGGCATGTCAACACTGGGGACCCTGGCCTCTTGGCGTCTGGCACCTCGATGATCTGGGTTTTGGAAATTACGTTATCTCCCATCGCACAGCCTTCCCTGCCCTGCACACGTGGCAGGACACAGAGATTCCACTGCTGCTCGTGCTGGAGGGGACCGAGGCTCAGAGAGGCTACCCGAGGCCTCCTTCAGGGCAGATGGGAGGTAGCATCAGGCCACAGGCCCTTCCCCACTGGCAGGTGAAGAAGGCTTGGCAGTTGTGCTCAAGGGGAGCAGACCTTGGGGTTGGGGAGTGGACTCTCACTGCCTTCCTCCTCCTTGGTGCCTGGCTGGGCGTCGGTGCCTGGCTCGGCGTCGGTACCTTGCTGGGTGTCGGTGCCTTGTTGGCGTTGGAGGTGGGCTGCCCAGGCAGGCTCCGTTACTGGTGGTGGTGTTTTCAG
Seq C2 exon
GCCCGACCCTGCTGCTGACTAGTGACAACATAAAACGGCGCCTTGGCTCCGCTGCCCTGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653:ENST00000406427:21
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.090 A=NA C2=0.000
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
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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