Special

HsaINT0122168 @ hg38

Intron Retention

Gene
Description
phosphodiesterase 6B [Source:HGNC Symbol;Acc:HGNC:8786]
Coordinates
chr4:662134-662618:+
Coord C1 exon
chr4:662134-662241
Coord A exon
chr4:662242-662508
Coord C2 exon
chr4:662509-662618
Length
267 bp
Sequences
Splice sites
5' ss Seq
ATGGTACGT
5' ss Score
9.89
3' ss Seq
AGGTGGCCCTGTCTCTACAGACC
3' ss Score
8.24
Exon sequences
Seq C1 exon
GTCCTGGTGCGGTTCCTGTTCTCCATCAGCAAAGGGTACCGGAGAATCACCTACCACAACTGGCGCCACGGCTTCAACGTGGCCCAGACGATGTTCACGCTGCTCATG
Seq A exon
GTACGTGGCTGCCAGAATCACCAGGGTTGTGCAGGCCCTCCTGGTACCAAGGGCAGCACTCAAGCACCCCGAGGGATGAGATGGGGGTCCTCCCAGGGCAGAAGGATGGAGGAGGGCAACGCCCTCTGACACCGTGCACCGCGCACCCCAGCCCTGCGGTGGTCGGAGGTCCAACCTCCAACCCGACGCCTAGGTCATCCCAACCCCTCACCACTCCCCACCCTGCTGGAGCCAGGACCGGTGAGCAAGGTGGCCCTGTCTCTACAG
Seq C2 exon
ACCGGCAAACTGAAGAGCTACTACACGGACCTGGAGGCCTTCGCCATGGTGACAGCCGGCCTGTGCCATGACATCGACCACCGCGGCACCAACAACCTGTACCAGATGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000133256:ENST00000255622:13
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:
PF0023314=PDEase_I=PU(7.2=50.0)
A:
NA
C2:
PF0023314=PDEase_I=FE(14.5=100)


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:
GTCCTGGTGCGGTTCCTGTT
R:
TGGTACAGGTTGTTGGTGCC
Band lengths:
212-479
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