HsaINT0128580 @ hg19
Intron Retention
Gene
ENSG00000032444 | PNPLA6
Description
patatin-like phospholipase domain containing 6 [Source:HGNC Symbol;Acc:16268]
Coordinates
chr19:7622054-7624037:+
Coord C1 exon
chr19:7622054-7622170
Coord A exon
chr19:7622171-7623735
Coord C2 exon
chr19:7623736-7624037
Length
1565 bp
Sequences
Splice sites
5' ss Seq
CAGGCAAGT
5' ss Score
3.1
3' ss Seq
TGACCCCCCTGGCCCCACAGCGG
3' ss Score
8.86
Exon sequences
Seq C1 exon
GCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAG
Seq A exon
GCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCTAATCCCAGCTACTTGAGAGGCTGAGGCAAGAGAGTTGCTTGAACCCGGGAGGTGGAGGTTGCATCGAGCCCAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAGAAAATAAAACAAAACCTCCCAACACCTGACCCCCCTCCTCAACTTCAGTTGCATCATTTGCACGTCTGTGCATGACAGCATGGTGTTTGCATGTGTGGGTATTCTCTCTTTTTTTTTTGCGTGATCATTTGCATGATGGCATCTGTGGGACTGGGTTGAACATCTCTGCCCCGGGCCCCCGAGGGGAGCAGCCCGCTGACCCCCCTGGCCCCACAG
Seq C2 exon
CGGACATCGCCCGCAGCATGGGTGCCAAAACGGTCATCGCCATTGACGTGGGGAGCCAGGATGAGACGGACCTCAGCACCTACGGGGACAGCCTGTCCGGCTGGTGGCTGCTGTGGAAGCGGCTGAATCCCTGGGCTGACAAGGTAAAGGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000032444-PNPLA6:NM_001166114:27
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0173417=Patatin=FE(23.4=100)
A:
NA
C2:
PF0173417=Patatin=PD(2.4=4.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACGCTGTCGGGCTACCT
R:
GGTCTTGAAGCAGTCGATGGG
Band lengths:
358-1923
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)