Special

HsaINT0128606 @ hg38

Intron Retention

Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137484587-137493082:-
Coord C1 exon
chr9:137493013-137493082
Coord A exon
chr9:137484737-137493012
Coord C2 exon
chr9:137484587-137484736
Length
8276 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
3' ss Seq
GTGGGTCCTTTGCTCCACAGGCC
3' ss Score
9.48
Exon sequences
Seq C1 exon
GTGGTGACTCGGCTGATTCATCTCTTGGGTGAGAAGATCCTGGGCAGCCTCCAGCAGGGACCTGTGACAG
Seq A exon
GTGGGTCACCTCTCCCAACCCAGAGCCTCCTGGGAGCCCTCACCCAGTCCTGGAGCCCCGCCCACCCAGCCCATGGCCCCGCCCTCCCAGCCCATGGCCCCGCCCTGTCCTGGAGCCCTGCCCACCCAGTCCATGGCCCTTCCCTGTCATGAAGCCCTGCCCACCCAGCCCATGGCCCCACCTAGTCCCAGAGCCGTAGCCCACCCAGCCCATGGCCCTGCCCACCCAGCCCATGGCCCTGCCCTGTCATGAAGCCCGGCCCACCCAGCCCATAGCCCTGCTCTGTTCTGGAGCCCTGCCTACCCAGCCCATGGCCCCACCCCATCCTGGAGCCTCACCCACCCAGACCATGGCCCTGCCCTGTCGTGCAGTCCCACCCACCCAGCTCATGGGCCCTGCCCTATCCTGGGGCCCCACCCACCCAGCCCACGGCCCTGCCCTGTGCTGGAGCCCCGGCCACCCACCCGCCCATGGCCCCGCCCTGTGCTGGAGCCCCACCCACCCGCCCATGCCCCTCCCCTGTGCTGGAGCCCCGCCCACCCATGGTCCCACCTACCTCAGAGCCCCGCCCACCCGAGCCCAGTAATTTTTTTCAAACTGTATCTCAATGTGGGCAGCACTGGAGGAAAGCTCTGCTATATGTGAAAAGATGAAATGTGATATATCTCCCTCCTATTTTTGTCAGCTGATTGGAAAAAGGAAACAGGGTGAAACCTCCGGAAACGGTATTGGTGGAGCGGAGAGTGCTCTCTCTCCTGTGCTCAGCATGGAAAGATAATGAGACCATTCTAGAGTGTGGGGAATTTAGTTTTCCCTGCTCCAGCATATTCATTCTTTCCTAGTTCTGAGGTGTACTTTTTTCTGGAGCCACTGTTAGCTCTCAGGCTGTCCTCTCTCACCAGGTCCCACATACTCAAGGACTCTGACCCTTTATCTCTGCTGGACAGCATTTGACCCCAGATCCCCTTGCCATTCTGGGAGCTCCTCTCTCCTGCCTTCTGCCTCTGTGCCTGCTGCTCTCTGCCTGGAGCCCTCAGAAGAGCCTGGCTGCTCCCGCGTGTCCTGCATCTCCGTCTCAGCACAGCCTCCCTGGCCTCCCCATCCGCCCAGCACTCTCAGCTCCCTTTCCGCTTCCTTTTTCTTCTCTGTGCTTGTCACCCCCGACACATTGCATGACCTGTCACCTGCCTCTGGCATTGGCGTGTGAGCTGGCTGGGAGCAGGAGCCTGCGTCTGTGTTCACACAGTGACGTGTGCACAGCATTGAACGTCTGTCCAAGAAGCGGATGGATGCACAGAGGGCCACACAGAGGCAGCGAAGTGTGAGCCCCACTCTAGGGTGACCCCATCTTCATCTGAGTTCCTCTGCAAAACCGTTTCCAAATAAGGTCACATTTTGCGGTTCTGGGTAGACATGAATTTGGGGGGACACTAACACGTAATGTAACTCTTCACTCTCCACTTACCTGCACTGTGAATTTTGGGGGACACTGTCTAACACGTAACGTAATGTGACTCTTCGCTCTCCACTTACCGGCACCGTGAGTTTTGAAGTGAGTTTCTTGTAGAAGGTGTCCGGTTGGATCATGTGTTCCTCATCCCTTCTGACAATCTTTATCTTTTGTGTGTTTAGACTGTAGATACTTAGTGTAATTATTCTGTTACGTCTTCCATTTTGTTGTTTTTTCTGTTCTCACGCCCCCCACTGTTGTTAAACACTACTGTATTTTCTCTTTTTATTTAGAGATGGGGTCTCGCTATTTTGTCTAGGTTGGAGTGCAGTGGCTAGTCACAAGTGCAATCATAGCTCCCTGCAGCCTCTAACTCCTGGGGTCAAGTGATTCCCCCCCCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGTGAGCCTCTGCGCCCAGCTTTTCTGTCTACTCTTATGTTACTTGAACTTTTTTGAGTATTCCATTATAATTATCAACTGTGGTTTCCATGATGTCTCTTCATGTGACATTTTCAGTGGTTACTCTAGCGATGACGTTATCCATACCTAACTTATCCTTGTCTACTGACAGCCACATCTCAGCACTTTAAGTGGAATGTGGAGAGCTCACCATTGTTCAGTCACTTCATCCTTCCCCCTTTATGATGTGGTTGTCTTAACTATTACCTCTGTAATTTTGTCAAACTGTAGCCCCAAAAACACAGGGCTACAACTTTCGCTTTCAGCCATCAAACATGATTTTTAAAACTTAGGAGAATAGTCTGTGATGTTCACCCAGGGTCACCGTCCTCCTGCTCTTCTTTCATTTGCGGCATCTCAGGTTTCCTTCTGGGCTCGTCTCCTTGCTGTTGAAGAATTGTGGTTAGCGGTTCTTTCAGAGAAGGTCTGATGGCTGCAGATCCGCTTGCTTTCCCTCATCTGAGAATCTGAGAATATCTCCATGTCACCCTCATGCTGAAGGGTGCTTTTGCTGGATGTATAATTCTGGTTTGGCAGAAATACAAAGTATTTCAGCACTTTAAAAATCTTGTGCCACTTCCTCATGGCCTCTGTTGCTTCTCATGAAGGATCCAGGTATCCAGATGTTCTCCAGTAGGTAACGCATCATTTCTCTCTAGCTGTGTTCAAGAATGTTTTGACCAGGCACAGTGTCTTACACCTCATCCCAGCACTTTGGGAGGCCGAGACAGGAGGATTATTTGAGCCCAAGAGTTCGAGACCAGCCCGGGCAACATAGTGAGACCCTGTCTCTATGAATAAAATTTGAAAAATGATCCAGGCATGTTAGCACACACCTGTCGTCCCAGCTATGCAGAGGGTTGAGGTGGGAGGATCGTTTGGGCCTCGGAGTTCGAGGTTACAGTGAGCTATGATCGCGCCACCGCAGTCCAGCCTGGTCAACAGAGCAAGACCCTGCCTCAAAACACACACACAAAAAGGTGTTTTTCTCTGTCTTTAGTTTTCAGAAATGTGATTTGGAAGTGTCTGAGCATGAATACTTTGGATCTGTCCTGTTTGGGGTTTCTTCGTCTTGGACCCGTAGGTTTATAGCTTTTAACACATTTTGGAAGTGTTCAGTCTATATGTCTTCAAACGATTCTTCCACTCGTGTGCCCCTCCACCTCTTCTGGAAATAAAGTGGCACAAGTGTTAGACCTCGCGTTATTGTCCCCAAGGTCTCTGGGGCACTGCTCATTTTTTAAACCTTTTTTTTCTCTCTCTGATGTTAAGATGGAATTGTTTCTTTTGATCTATCTTCAGGATCTTTGGCTTTTTGTCATCTCGATTCTGCTTTGAGGCCTATCAGAGAGTTTTAAAAAAATGTTCTGTCATCGTGTTTTGGTTCTTCTGTGTGCCTCCTGTTTCTTTGCTAGGACGTTCTCTCTTTGTCTTTGTTTCAGGAGTGTTCAGGATTGCTGGTTCTAGCTGGTAATGATAACAGCTTTATCGTCCTGGAGAAATAATTCCGTCTGTGACATGCGGTCGTTTTTATCTGTGGATTGTTTTTACTCCTCTGGTTCAGATCCTCCTTGCTCTTGGCATACTGGGTCACCATGGATGTGGCCTGGTCACTGTGGACCCATCCTGGTCACTGTGGATTTTGTGTCCTGATGTTTTGAGTGTTAGGCTATGAGACTCTGGTTCCCATTTAAGTCTTCAATTTTCACTGTTAGTGTGCTTGTATTCACAGGGCATGTCCTGGCCAACGTTTGTGGAGTGTGGTTTGAACGTGAACTGACCCTGGTCTGCCTACTAGGTGCTGCCCAGGCCCAGTGTGAAGGCTGCATTCTGCGCCATCTTCAGCTCTCAGACCCGAACACCTGACCCTGGCACAGGCTGCGTCTTCATTACAGATTCGAGGCTTTCTTGATCTCCTACCTCTAGTTGGCAGGAGGTGGGGCCTCCTCTGCTTTCTCTGCAGGGGTGCACAGTTGGGGGGATGTCTGCTGGTCAGGGGGTGCACAGTTGGGAGGGATGTCTGCTGGTCAGCGGGTGCACAGTTGGGGGGATGTCTGCTGGTCAGTGAGTAGACAGTTGGGATGTCTGCTGGTTAGGGGGTACACAGTTGGGAGGCATGTCTGCTGGTCAGAGGGTGCACAGTTGGGGGGATGTCTGCTGGTCAGTGAGTAGACAGTTGGGATGTCTGCTGGTTAGGGGGTACACAGTTGGGAGGGATGTCTGCTGGTCAGGGGGTGCACAGTTGGAGGGATGTCTGCTGGTGTGGGCGGTGGACAGTTGGTGAAGAGGTTTCCTGCTGTGGGTGGTGGACAGTTGGGAGGATGCTGGCTGGTCGGGGGGTGCACAGTTGGGGGGGGATGTCTGCTGGTGCTTGCTTGGTGCCAGTCAGTGTCCCTAGAGGCAGCTCCCATGGGGAGGGAGGGACAGACCCCTCCGTCTGTGGCAGCCATGTGGCTGGGAAGCAGACTCTGCTTCTTTCTTGGCCTGAGTCAAGTGGTTCCTCCATGAGTCCGAGGTCCCCGGCCAGCCTGCCTTCCTCTCCATCCTTTGGAGTCTTGCGAGAGCTGCCTCGAGCTCTGTCCCTCTCTGATCATGACTGGTGACAGGTGGCCTGTGTCTGCTCCACCTCCCTTCTGGCCCAGAGCCAGAACCTCACCAGTGCTTTTTCCCAAGGCTAAGGCCATATGGAACTAGCAATGGCCTCCCCCATTCCGCCTCAAATGAGGACTCTGACACCTCAGTCCCTGGAGAGGCGAGAGGAAAGGGATTCCCAAGGAAAAGCTGCAGGAAAAATAAAAATAAATCCACATCAGAGAGCCACGTTCGGGCCGAAGCTCGGGACGAGACATCAGACCGCGAGAGCCGCGTTCGGGCCGAAGCTCGGGACGAGACATCAGACTGCAAGTGAAGCTCGGGACGAGACATCAGACCACGAGAGCAGCGTTCAGGCCGAAGCTCAGGATGAGGAGGCGGTTCTCCGTCTTTCTGTGCTCAGCAGCACTTTGGTGTGTGTGTGCATTGTTTGTTTGCTATCTGGGAGTTATTTCCTCCTGATTATAGAAGCCACCTGCCTTCCACTCAGCGCCTAGAGGCGGAGACACATCATCTGGGCCTGAGTCCCCCGCTCCTCCCGTGTGGCCAAGGCTCAGCTGCAGTGAGGGGCTGAAGTGCGTGCGGTGAAGGTGATGCTGGGGACACCTCGCAGGGCGTGCCAGGTTGTGGTGGTGGCCCAGGCTCCTGAGATGCCCCTGACAGGCAGGTGGAGGCTGGATGGGACGGCCTCTCGGGGGCCAGCTGGGGTTGGGTAGAACTGGAGGCTCTGTGGCTGGCACAGCCGGTTCCGTGCCGGTGTGGCTGGTTCCCCCAGAGGAGCAGAGGCTGCCAGGAGGAACACGTGTGGAGGGTTTTATTTTGCTTCATTTTTCTTGTCTGTCATTGTGGAGTTTTATCACAAAGGCTGTGTAGGCTGCAAAAAGACCTAAGAGCCCCCAGGCACGAGATGAAGACGTGGGCGCCTCCCTCTTACAGCTGCTCAGGTGGTGCTGAGGCGCCAGTGCCCCGGTTCTTTTCCTGCACAGACACAGCTGCACATGCGTCAGGCAGGGTCCTTTACTGGGGCTGCCGGTTTGGGTATTTACTCCAGGGCTGGGGTCCCCTCCAGGGGTCCATGAGCCCCACGGCGACACTTGGCCAGCCCTGCACTCCAGGCCGGCACTTTGGGCCACTCAGCTCCAAGCGCTTATCCCGACCAGGGCCCGGTGTGGATGCCTCTGCACGTCTCCAGCGCTGCTTGGTCACAGCCCTTGGCAGAAGCTGGGTGCGGTCTGTGAACAGCTGGGGATGCAGCTGGGCTTTGCAACCTCCAGGCAGAGATGGGCACTGGACACTGAGCCCTTGGCAGCCGGTGCGCAGCACGCAACCGTCCATCCCTGGCTTACCTGCTGGGGCCAACCAAGCACTGGGCCCTGTCGGAAGCTGGCACCGTGCTCAGGAAGCCAGTCAGGAAAGAACCTTCTCCTAGAGCTGCAGTCGAGTTGGGTCAGGGATGAAATTGGACCAAGAAGGCAAAAGAGATGGCTCAGAAGGGCGGGGGGAGGGGCAGGGGCACGCAGGTGGTGGGGCAGCGCTCCCTGAGGAGGTCAGGACCCTTGGGGCCAGGAAGAGAGCTGTGTGGTGTGGGGGTCACCAGCAGCTCTCAGGGACCGCAGATGGGCTGAGGCTGCAGACTCTGGCTTGTTCTGAGTGGGGAGGGGCACCAGGGGCTTTGAGCAAAAAAGGCTCCGGGCAGACTTGGGCGTCGAAGGCCAGCTCCGGCCACTGTGCACAGAGCGTCCTCTCAAGCAGGCGGCTGAAGCCACCCCAAGGCTGGGCGGTGGAGGCCCAGGGCTCCCGGTGCTGAGTTGGACTGAGGGCGGGGACTGAGCTTTGGTGGGTCGGGTAGGAGCCTGGGGCCGGAGGTGGGGGCCGAGTCCGAGGGAGGATCTGGGGCTGTGTGAGTCTTGGACACTCATTCGGGATGTGGGATGGGCAGCATCATTTATCTGTTTCTGCCTGCATACAGGTACGGGTGTTTTTCTTTTGGGAGGCCTTGAGTATTTATTTAATAATGGAATCACATTTATAAACCACTCTGCAGCTTTCCTGCTCAGCAGCACGTCATCAGCTATTTTCCTGTGAGCACATGATTGCCGGCTGTGCGCTGGTTCTCCGAGCCATGTTCCCCGTTCACAGGCTCTTACCCGCAGTGCTGCCACGGCGCCGTGTGCATCCCAGGATCTTGCAGGTGTCCGCTGGCCGCCGTCTGCAGGGAGTGGCCCTTAAGCCCTCACTTGGTTCTGTGTCCCCAGGCTTGCTCTCCTGGCCTCTTCCCTCACCATGCCGCGTCCCCTTACTCTGACCTTGGCCAATCAGGACCTGCGTGTCTGGTGGATTTTGGAAGCCACCTCACTGGGGACGGGAGACATAGGCCAGGGGACAGCCTGTGAGAGGGCTGGGCCACGGGGACTGCAGAGGAGGAGCATCCACGGCACCTAGATGCAGGAGACCCTCGTGGGCAGGAGCGTGGCTGGTGGCGCGGTGGCCTCAGGAGCAGTGAGGCCGTCCCCTCAACCTCTTCTGTGGAAGCAGAGATGCCACTCGCCAGACGGCATCCAGTAAAGAGGGCCTGGGACCCTCTGGGGGACTCTCAAGTCCCAGACCCCCTGGTCCATGTCCTTGCCACTGTGCTGGCCGAGGGGCCCCTCAGCCCACATGGGGCCCAGGGAGAGGGTCCTGCCTGTCTGGGCGGGCCCCTTGGTGGGCCCTGGAGGCTCCAGTCTCAGGGAGAGGAAAGCCTGGTCTGCCTTGACACCCTCACTCGCGTCTCCGGGGTCTCCAGGGCCTGGCCCAGGCTTCCCAGGGCTGCGCTGTGCTTCCTTGGTTTCTGGAATCCCTTGCAGATGACAGACAAGAGAAACGGGCCTATTGATGTCTAGCCCGTGTGTTGTTTACTGTTCCTGGAGTGAGTGGTGGAAAGCCCTGCGACGATTGGTTCAGAGGATAAGGCCTCACCTGGAGAGTATGTCTTGTTTACTCCGATGAGGCCTCACCTGGAGAGTGTGTCTGGTTTACTCCAATGAGGCCTCACCTGCAGCGTTTGTCTGGTTTACTCCGATGAGGCCTCACCTGCAGCGTTTGTCTGGTTTACTCCGATGAGGCCTCACCTGCAGCGTTTGTCTGGTTTACTCCAGTGAGGCCTTACCTGCAGCGTTTGTCTGGTTTACTCCGATGAGGCCTCACCTGCAGCGTTTGTCTGGTTTACTCTGAGCCTCACATTCCTTTCAGTCGCTCCGTGAATCACTGTCTTTGGTGGGTCAGGAGGAATCCACTCCCTGGGCCTGGGCCTGGACCAGTGCTGGTCAGACCTGCTGTGTGGGGCCTGGGGACGCTTGCAGGTGTGGACTGGCAGCTCATCAGGAAGAGCTGGGGAAGGCGTGAGACCAAGACAGCCTCCGGCCTGGAGAAGGCGTGAGGCCTAGGCAGCCACATGGCTGGGGACAGCGTGAGGCCCAGGTAGCCTCTGAGGGTTGGGGGAGGCATGAGGTCCAGGCAGCCCCTGAGGGCTGGGGAGGCGCAAGGTCCAGGCAGCCTCAGGACTGGGGAGGCGCGAGGTCCAGGCAGCCTCAGGACTGGGGAGGCGGGAGGGCCAGGCAGCCTCAGGACTGGGGAGGCGGGAGGGCCAGGCGGCCTCTGGTGCTGCTGCGTTGCTCCTGTGCAGCCTCGGGGGGCCCCAGGGCATCTGGAGGCATCTGTGAGCGTGTGGGCTGTCCCAGCTGACGTGGGTCCTTTGCTCCACAG
Seq C2 exon
GCCACCAGCTTGGGCTCCCCACGGAGGGCAGCAAGTGGGACTTGGGGAACCCGGCTGTCAACCTGTCCACGGTGGCAGTGATGCCCGTGTCAGAGGAAGTGCCCCTCACCGCCTTCGCCCTGGAGCTGGAGCATGCCCTCAGCGCCATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653:ENST00000406427:20
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.052 A=NA C2=0.090
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
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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development