Special

HsaEX0046392 @ hg19

Exon Skipping

Gene
Description
pyruvate dehydrogenase kinase, isozyme 1 [Source:HGNC Symbol;Acc:8809]
Coordinates
chr2:173429706-173435552:+
Coord C1 exon
chr2:173429706-173429801
Coord A exon
chr2:173431584-173431661
Coord C2 exon
chr2:173435454-173435552
Length
78 bp
Sequences
Splice sites
3' ss Seq
TTTGTTTTGATTCACACTAGATG
3' ss Score
7.36
5' ss Seq
ATGGTAAGC
5' ss Score
9.26
Exon sequences
Seq C1 exon
CTTTATTGTTTGGTGGAAAAGGCAAAGGAAGTCCATCTCATCGAAAACACATTGGAAGCATAAATCCAAACTGCAATGTACTTGAAGTTATTAAAG
Seq A exon
ATGGCTATGAAAATGCTAGGCGTCTGTGTGATTTGTATTATATTAACTCTCCCGAACTAGAACTTGAAGAACTAAATG
Seq C2 exon
AATGCAATGAGAGCCACTATGGAACACCATGCCAACAGAGGTGTTTACCCCCCTATTCAAGTTCATGTCACGCTGGGTAATGAGGATTTGACTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152256_MULTIEX4-1/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.110 A=0.046 C2=0.008
Domain overlap (PFAM):

C1:
PF104364=BCDHK_Adom3=PD(13.2=66.7)
A:
NO
C2:
PF0251821=HATPase_c=FE(25.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTGGAAAAGGCAAAGGAAGT
R:
TCCTCATTACCCAGCGTGACA
Band lengths:
172-250
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