HsaINT0122541 @ hg38
Intron Retention
Gene
ENSG00000004799 | PDK4
Description
pyruvate dehydrogenase kinase 4 [Source:HGNC Symbol;Acc:HGNC:8812]
Coordinates
chr7:95592511-95592944:-
Coord C1 exon
chr7:95592760-95592944
Coord A exon
chr7:95592598-95592759
Coord C2 exon
chr7:95592511-95592597
Length
162 bp
Sequences
Splice sites
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
3' ss Seq
TTGTTTTTATTTTTCAACAGTTC
3' ss Score
9.78
Exon sequences
Seq C1 exon
CTTTGTAGATACACTCATCAAAGTTCGAAATAGACACCATAATGTAGTCCCTACAATGGCACAAGGAATCATAGAGTATAAAGATGCCTGTACAGTTGACCCAGTCACCAATCAAAATCTTCAATATTTCTTGGATCGATTTTACATGAACCGTATTTCTACTCGGATGCTGATGAACCAGCACA
Seq A exon
GTAAGTTAGCTCATCATGATCATGGTATATAGACATGGGTGTAGAATATAAGCCATACTATAACTAGATGTCTCACTAATCAGCGGGTCACATTCTCAGTGATAGTACTAATCATTATCCTGAATTTTATAACAATTTTTTTTTGTTTTTATTTTTCAACAG
Seq C2 exon
TTCTTATATTTAGTGACTCACAGACAGGAAACCCAAGCCACATTGGAAGCATTGATCCTAACTGTGATGTGGTAGCAGTGGTCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000004799:ENST00000005178:4
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:
PF104364=BCDHK_Adom3=FE(37.8=100)
A:
NA
C2:
PF104364=BCDHK_Adom3=PD(11.6=63.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCATCAAAGTTCGAAATAGACACCA
R:
TGGACCACTGCTACCACATCA
Band lengths:
256-418
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