HsaINT0122521 @ hg38
Intron Retention
Gene
ENSG00000005882 | PDK2
Description
pyruvate dehydrogenase kinase 2 [Source:HGNC Symbol;Acc:HGNC:8810]
Coordinates
chr17:50105885-50106883:+
Coord C1 exon
chr17:50105885-50106069
Coord A exon
chr17:50106070-50106793
Coord C2 exon
chr17:50106794-50106883
Length
724 bp
Sequences
Splice sites
5' ss Seq
ACAGTGGGT
5' ss Score
2.99
3' ss Seq
TCCTCCCTTCCTGCCTGCAGCCC
3' ss Score
10.24
Exon sequences
Seq C1 exon
GTTCACTGACGCCCTGGTCACCATCCGGAACCGGCACAACGACGTGGTGCCCACCATGGCACAAGGCGTGCTTGAGTACAAGGACACCTACGGCGATGACCCCGTCTCCAACCAGAACATCCAGTACTTCCTGGACCGCTTCTACCTCAGCCGCATCTCCATCCGCATGCTCATCAACCAGCACA
Seq A exon
GTGGGTGCCGGCCACAGCGGCGGGGAGCGGGCGGTGGGGGGGGCGGTGCTGGGGCCCAGGGCCGGGCTGCTGAGGGGACCTAGACCACTCTTCAGAACCCCACAAAGGGAGTCTTTGAATAGTTACTCCAGTAACTATGGAGTTAATGGCTCCAACATGGAAAAATAAAATTTTTCTTTCTCATTGATTTTCCATTTCAAAACGTTTTGTTTTCAGTGTTTGCAAAATGTAAAATTATGTCACATCTTTAAAAGAATGTTTAATTTAGTATTTATAAAAACTCTCATTATGTTCAAAAACAATTTGTTGTTTAGAGTTTCTTATTCCAGGAGGATTCACTATGATTTTTGAGAAGTTGTAGCCAGTCATAAATTAAACAAGTTCCTCATGCTCAAATAATTTCCAAAGCAAGGTGGTAAGAGTTCTCTTAGAATGTTATAGTCAAAGAAAAGAATAAATGCAATGTGGAGATGTGATGTGGGGAGAGACCTCTGAAAAGACGTCTGTTTCAGGTTTGCAAAGGTTTAAAAACGGCCTAAGCCAGGGCTGGAGGGGTCAGGGGTCAGGGAAGGGAGGACAGAAGCGGGGGAGTGGGGCAGCTTTAGGACTGGAGCCTACAGAGGCATTGGAGGTGAAAGTAGAAAGAGGAGGAAAGCCCGGGGGAAGAGGGAGCGCTGGGACAGACTGCAGCCCAGCCAACAGCATCCTCCCTTCCTGCCTGCAG
Seq C2 exon
CCCTCATCTTTGATGGCAGCACCAACCCAGCCCATCCCAAACACATCGGCAGCATCGACCCCAACTGCAACGTCTCTGAGGTGGTCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000005882:ENST00000503176:4
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=0.169
Domain overlap (PFAM):
C1:
PF104364=BCDHK_Adom3=PD(52.0=96.2)
A:
NA
C2:
PF104364=BCDHK_Adom3=PD(15.5=64.5)
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:
TTCACTGACGCCCTGGTCA
R:
TTGACCACCTCAGAGACGTTG
Band lengths:
272-996
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