Special

HsaEX6079212 @ 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
chr20:62199711-62201964:-
Coord C1 exon
chr20:62201857-62201964
Coord A exon
chr20:62200501-62201018
Coord C2 exon
chr20:62199711-62200352
Length
518 bp
Sequences
Splice sites
3' ss Seq
CCGTCTGGCCTCCTCTCCAGGAG
3' ss Score
9.3
5' ss Seq
CAAGTGAGC
5' ss Score
6.39
Exon sequences
Seq C1 exon
CTGGCAGAGACCCTTGATGGAGTGCGTGTCACCTGCAACCAGCCCCTGATGTACCAGGCCCAGGAGAGGAAGACCCAGTACAGCTGGACGTTTGCCGTCCACTCTGAG
Seq A exon
GAGCCCCTGCTACACGTGGCCCTGCTGAAGCAGGAGCCAGGAGCCGACTTCTCTCTGGTGGCTCCCGGCCTCCCGCCAGGCCGGCTCTACGCACGGGGTGAGCGCTTCCGTGTGCCCAGCTCCACTGCCGACTTCCAGGTGGGAGTGCGTGTGCAGGCTGCCTCGTTCGGCACCTTTGAGCAATGGGTGGTCTTCGACTTTGGCCGCCGGCCGGTGCTGCTACAAAAGCTGGGGCTGCAGCTGGGCCAGGGGCGTCGCCCAGGACCCTGCAGGAATCTGGCGCTCGGCCACCCTGAGGAGATGGAGCGCTGGCACACTGGCAACCGCCACGTGGTGCCTGGCGTGGAGCGGACGGCCGAGCAGACGGCCCTGATGGCCAAGTACAAGGGCCCTGCCCTGGCCCTGGAGTTCAACCGCAGCAGCGTGGCCTCGGGCCCCATCTCACCAACCAACTATCGGCAGAGGATGCACCAGTTTCTCTATGAGGAGGAGGCGGCTCAGCAGCAGCTGGTGGCCAA
Seq C2 exon
GCTGACCCTGCGGGGCCAGGTGTTCCTGAAGACGGCATTGCAGACGCCAGCGCTGAACATGCTCTTCGCGCCTCCGGGAGCACTGTACGCAGAGGTCCCCGTCCCCTCCTCCCTGATGCCAGACACAGACCAGGGCTTCCTGCTGGGCCGGGCGGTCAGCACAGCCCTGGTGGCCCCTGTACCTGCACCCGACAATACGGTGTTCGAGGTGCGGCTGGAGAGGCGGGCCAGCTCAGAGCAGGCGCTGTGGCTGCTGCTTCCGGCCCGCTGCTGCTTGGCCCTGGGGCTGCAGCCTGAGGCCCGCCTGGTCCTGGAGGTGCAGTTCCAGATTGACCCGATGACCTTCCGCCTCTGGCACCAGGCAGTGGACACACTGCCTGAGGAGCAGCTGGTGGTGCCCGACTTGCCCACCTGCGCCCTGCCCAGACCTTGGTCTGTCCCACCCTTGCGGCGTGGCAACCGCAAGCAGGAGCTGGCCGTGGCGCTCATCGCGGGCTGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589-'5-6,'5-5,8-6=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=0.162 C2=0.005
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF130861=AAA_11=PU(31.9=28.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
([1])
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTTTGCCGTCCACTCTGAG
R:
GGGTCAATCTGGAACTGCACC
Band lengths:
356-874
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains