Special

HsaEX6051106 @ hg38

Exon Skipping

Gene
Description
pyruvate dehydrogenase kinase 3 [Source:HGNC Symbol;Acc:HGNC:8811]
Coordinates
chrX:24528076-24534425:+
Coord C1 exon
chrX:24528076-24528186
Coord A exon
chrX:24531657-24531770
Coord C2 exon
chrX:24533929-24534425
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-'23-25,'23-24,24-25
Average complexity
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=0.444
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