Special

HsaEX0046386 @ hg19

Exon Skipping

Gene
Description
pyruvate dehydrogenase kinase, isozyme 1 [Source:HGNC Symbol;Acc:8809]
Coordinates
chr2:173460557-173492763:+
Coord C1 exon
chr2:173460557-173460751
Coord A exon
chr2:173488764-173488880
Coord C2 exon
chr2:173492557-173492763
Length
117 bp
Sequences
Splice sites
3' ss Seq
TCTTTCTCTGTTCCTCTCAGGAA
3' ss Score
10.64
5' ss Seq
TAGGTGGTT
5' ss Score
-0.93
Exon sequences
Seq C1 exon
GCTCTGTCAACAGACTCAATAGAAAGACTCCCAGTGTATAACAAAGCTGCCTGGAAGCATTACAACACCAACCACGAGGCTGATGACTGGTGCGTCCCCAGCAGAGAACCCAAAGACATGACGACGTTCCGCAGTGCCTAGACACACTTGGGACATCGGAAAATCCAAATGTGGCTTTTGTATTAAATTTGGAAG
Seq A exon
GAACTCCTCCTCCCACATCTGATGGAGCTACCAATCATCAGATCTCCTCTGCCTCTGGGGTGCGTCTCAGGCTGGCCAATCACGTTCTTCATCCACGTGGACTATGACTGGCCCTAG
Seq C2 exon
AAACCGAACCCTCACCAAACAGATCTGCTTGCACATCCACTTGCACGTAGACCTCAGATAAGTGAGATCTGGGACCTGAACTCTGACCACCATCTTTTGTTCTAAATTTCTTCCCGCGGGGCGTGGAGAAAGTCACACCCATGAGCTGGACCTAACATTCTTTTCTGCTGACCCCAAATTATTAAACCTTCTCAAACCAATTGCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256_MULTIEX1-2/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

3' UTR

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.109 A=NA C2=NA
Domain overlap (PFAM):

C1:
PF0251821=HATPase_c=PD(0.8=2.1)
A:
NO
C2:
NA


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAAGCTGCCTGGAAGCATT
R:
TGGTCAGAGTTCAGGTCCCAG
Band lengths:
244-361
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development