HsaINT1026483 @ hg38
Intron Retention
Gene
ENSG00000132915 | PDE6A
Description
phosphodiesterase 6A [Source:HGNC Symbol;Acc:HGNC:8785]
Coordinates
chr5:149933930-149934718:-
Coord C1 exon
chr5:149934566-149934718
Coord A exon
chr5:149934020-149934565
Coord C2 exon
chr5:149933930-149934019
Length
546 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
3' ss Seq
TCATGCTGTTTGATTTTTAGATT
3' ss Score
9.61
Exon sequences
Seq C1 exon
GATGAGCATTTCTGTGACTTTGTGGACATCCTCACAGAGTACAAGACCAAGAACATCTTGGCTTCCCCCATAATGAATGGGAAGGATGTGGTGGCCATAATCATGGCTGTGAATAAAGTGGATGGATCCCACTTCACCAAGAGAGATGAAGAG
Seq A exon
GTAAGAATGCTTTAGAGACTAAGGATAGCCATGCTAGCACATTCTCCCAGCCTATGAAGTCCCCTGAACTTTGCTGTTTGACCTGGCCTCAGTTTTCCCATCTGTAAGACAGGGAATTCACCTGATGTTCTCTGAGGGAGGCAGGATAAAATAATAGTTAAGACATTGGGCTTTGGAGTCAGGAATAGAGGGATAATTGTTCTGGCTCCGCCAATAGCTGTTTGCCTTTTGCAAGTTATTTAACTTCTTTGAACTTTGGTTTTCTTATTTGTAAAATGTTGATAATTTTTCAGTATCAACCTCATAGGGAACTTATTAATAAATAGTAGCTATTTTTCATGAATACACTCCCATCAACATCAACATTCTACATTCGGTGAGTTTTATGCTCATGCAACATCTTATGAGTCTGCATTCTAGGATCCATCTGCCCAAATTGTCTCTGATGAAGCTTTGAAAATATTCAGATATTTGCTGATGGTAAAAGTAGCCAGAGGATGGATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAG
Seq C2 exon
ATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132915:ENST00000255266:2
Average complexity
IR
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:
PF0159021=GAF=FE(33.3=100)
A:
NA
C2:
PF0159021=GAF=PD(8.0=40.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGCATTTCTGTGACTTTGTGGA
R:
GCCACGTCGAGTTTCACAGTT
Band lengths:
238-784
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains