Special

HsaEX6051106 @ hg19

Exon Skipping

Gene
Description
pyruvate dehydrogenase kinase, isozyme 3 [Source:HGNC Symbol;Acc:8811]
Coordinates
chrX:24546193-24552542:+
Coord C1 exon
chrX:24546193-24546303
Coord A exon
chrX:24549774-24549887
Coord C2 exon
chrX:24552046-24552542
Length
114 bp
Sequences
Splice sites
3' ss Seq
TAATTTTCTTTTCTCAATAGGCT
3' ss Score
9.63
5' ss Seq
AAGGTACTG
5' ss Score
8.56
Exon sequences
Seq C1 exon
ATCAGTGACCTAGGTGGTGGTGTCCCACTTCGAAAAATAGATCGTCTTTTTAACTACATGTATTCTACTGCTCCTAGACCCAGCCTGGAGCCTACCAGAGCTGCCCCTTTG
Seq A exon
GCTGGATTTGGTTATGGTTTGCCAATTTCCCGTCTGTATGCTAGATATTTTCAAGGAGATCTGAAACTGTATTCCATGGAAGGAGTGGGTACTGATGCTGTCATTTATTTGAAG
Seq C2 exon
GCTCTTTCAAGTGAGTCATTTGAGAGACTTCCAGTTTTTAATAAGTCCGCATGGCGCCATTACAAGACCACGCCTGAAGCCGATGATTGGAGCAATCCCAGCAGTGAACCCAGGGATGCTTCAAAATACAAAGCAAAACAGTAATATACCACCTTGATTTCCATTACAAAGTATCTGATTTGTCTGAATAAAGGTGTCCCACTCACTGTTCCAGGAATTCTTGCAGTGTAGAGGTATTCACAACAGCAAGCAGGGATTTGGCCTGCCATCAATTTTATTTAAAAAGCAATTAAGTTTGCAGTTTGTCCTCATAAACGTTGTAGGTTGAAACTGAAAAATAAGTTAAAATGATCAATCAAGATAAAAGGTGATCTATCCATCCAATGGAATATTATTTGGCCTTAAAAAGGAAGGACATTCTGATATGTGCTGCAACATGGGTGAATCTTGAAGTCATTATGCTAAGTGAAATAAACCAGACATAAAAGGACAAATAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000067992-'9-10,'9-9,10-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.441
Domain overlap (PFAM):

C1:
PF0251821=HATPase_c=FE(28.6=100)
A:
PF0251821=HATPase_c=FE(29.4=100)
C2:
PF0251821=HATPase_c=PD(0.8=2.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTACCAGAGCTGCCCCTTT
R:
ACACTGCAAGAATTCCTGGAACA
Band lengths:
250-364
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains