Special

HsaEX6079220 @ hg19

Exon Skipping

Gene
ENSG00000130589 | RP4-697K14.7
Description
Peroxisomal proliferator-activated receptor A-interacting complex 285 kDa protein [Source:UniProtKB/Swiss-Prot;Acc:Q9BYK8]
Coordinates
chr20:62191524-62192282:-
Coord C1 exon
chr20:62192148-62192282
Coord A exon
chr20:62191832-62192050
Coord C2 exon
chr20:62191524-62191680
Length
219 bp
Sequences
Splice sites
3' ss Seq
GCGCACATCCTTGCCTGCAGCAT
3' ss Score
5.78
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GTGGTTCTTCTCGGAGACCACAAGCAGCTGCGGCCTGTGGTCAAGAATGAGCGGCTGCAAAACCTGGGTCTGGACCGGTCTCTGTTCGAGCGGTACCACGAGGACGCACATATGCTGGACACTCAGTACCGCATG
Seq A exon
CATGAGGGCATCTGTGCCTTCCCCTCTGTGGCGTTCTACAAGAGCAAGCTGAAGACGTGGCAGGGCCTGAGGAGGCCGCCCAGTGTCCTGGGCCACGCTGGCAAGGAGAGCTGCCCTGTCATCTTTGGCCACGTGCAGGGCCACGAGCGGAGCCTGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTGAGGTG
Seq C2 exon
GTCCGTATCACCAAGCAGCTGACCCTGGGGAGGACCGTAGAGCCCCAGGACATCGCCGTCCTCACGCCCTACAACGCGCAGGCCTCTGAGATCAGCAAGGCCCTTCGGCGAGAGGGCATCGCCGGGGTGGCCGTGTCCTCCATCACCAAGAGCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589-'19-21,'19-20,21-21=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=0.110 C2=0.000
Domain overlap (PFAM):

C1:
PF130861=AAA_11=PD(6.5=35.6),PF130871=AAA_12=PU(10.1=46.7)
A:
PF130871=AAA_12=FE(34.8=100)
C2:
PF130871=AAA_12=FE(25.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
HIGH PSI
([1])
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGTTCTTCTCGGAGACCAC
R:
CCTGGCTCTTGGTGATGGAGG
Band lengths:
292-511
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains