Special

HsaINT0122522 @ hg38

Intron Retention

Gene
Description
pyruvate dehydrogenase kinase 2 [Source:HGNC Symbol;Acc:HGNC:8810]
Coordinates
chr17:50106794-50107153:+
Coord C1 exon
chr17:50106794-50106883
Coord A exon
chr17:50106884-50107075
Coord C2 exon
chr17:50107076-50107153
Length
192 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
3' ss Seq
ATGACCCCATCTTCTCTCAGATG
3' ss Score
9.43
Exon sequences
Seq C1 exon
CCCTCATCTTTGATGGCAGCACCAACCCAGCCCATCCCAAACACATCGGCAGCATCGACCCCAACTGCAACGTCTCTGAGGTGGTCAAAG
Seq A exon
GTGAGCCATTCCCACGGTGCCTGGCCCGCAGAGAAGCCCCGGGGACCCCTCCAAGCTTACCTGGCCAGAGGGTGACTCGTTCCTCAGTAAGGGGTGCCATGGATTTAATGCTGGTGGTCCCCAGTATCAATGTCAGGAGGACTGCCTGCTGGGTGGGCCACCCATGCCCTGAATGACCCCATCTTCTCTCAG
Seq C2 exon
ATGCCTACGACATGGCTAAGCTCCTGTGTGACAAGTATTACATGGCCTCACCTGACCTGGAGATCCAGGAGATCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000005882:ENST00000503176:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.169 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF104364=BCDHK_Adom3=PD(15.5=64.5)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTCATCTTTGATGGCAGCA
R:
GGATCTCCAGGTCAGGTGAGG
Band lengths:
156-348
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