Special

HsaEX6009091 @ hg19

Exon Skipping

Gene
Description
pyruvate dehydrogenase kinase, isozyme 4 [Source:HGNC Symbol;Acc:8812]
Coordinates
chr7:95221823-95223082:-
Coord C1 exon
chr7:95223011-95223082
Coord A exon
chr7:95222072-95222256
Coord C2 exon
chr7:95221823-95221909
Length
185 bp
Sequences
Splice sites
3' ss Seq
CCATAAATATTGTGGCTTAGCTT
3' ss Score
2.68
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
GTATATACAGAGCCTGATGGATTTGGTGGAATTCCATGAGAAAAGCCCAGATGACCAGAAAGCATTATCAGA
Seq A exon
CTTTGTAGATACACTCATCAAAGTTCGAAATAGACACCATAATGTAGTCCCTACAATGGCACAAGGAATCATAGAGTATAAAGATGCCTGTACAGTTGACCCAGTCACCAATCAAAATCTTCAATATTTCTTGGATCGATTTTACATGAACCGTATTTCTACTCGGATGCTGATGAACCAGCACA
Seq C2 exon
TTCTTATATTTAGTGACTCACAGACAGGAAACCCAAGCCACATTGGAAGCATTGATCCTAACTGTGATGTGGTAGCAGTGGTCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000004799-'3-3,'3-2,4-3=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF104364=BCDHK_Adom3=FE(14.6=100),PF0160215=Adaptin_N=FE(27.0=100)
A:
PF104364=BCDHK_Adom3=FE(37.8=100),PF0160215=Adaptin_N=PD(43.8=61.9)
C2:
PF104364=BCDHK_Adom3=PD(11.6=63.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TACAGAGCCTGATGGATTTGGTG
R:
CTTGGACCACTGCTACCACAT
Band lengths:
154-339
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains