Special

HsaEX0046542 @ hg19

Exon Skipping

Gene
Description
platelet endothelial aggregation receptor 1 [Source:HGNC Symbol;Acc:33631]
Coordinates
chr1:156874540-156875216:+
Coord C1 exon
chr1:156874540-156874644
Coord A exon
chr1:156874736-156874790
Coord C2 exon
chr1:156875116-156875216
Length
55 bp
Sequences
Splice sites
3' ss Seq
TGTACCTGTTCACTTCTCAGAAA
3' ss Score
8.3
5' ss Seq
CGGGTACGT
5' ss Score
9.5
Exon sequences
Seq C1 exon
CTTCACTACCACCACCAAGGAGTCCCACTCCCGCCCCTTCAGCCTGCTCCCCTCAGAGCCCTGCGAGCGGCCCTGGGAGGGCCCCCATACTTGCCCCCAGCCCAC
Seq A exon
AAACTCAGAGGAAACTCCTGGCTTCTAGGGATTCATTCTGCATGGTCTGTGTCGG
Seq C2 exon
GGTTGTATACCGGACCGTGTACCGTCAGGTGGTGAAGACGGACCACCGCCAGCGCCTGCAGTGCTGCCATGGCTTCTATGAGAGCAGGGGGTTCTGTGTCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187800_MULTIEX4-4/4=3-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.194 A=1.000 C2=0.000
Domain overlap (PFAM):

C1:
PF075468=EMI=FE(70.0=100)
A:
PF075468=EMI=PD(10.0=50.0)
C2:
PF075468=EMI=PD(39.2=82.9)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTACCACCACCAAGGAGTCC
R:
TCTTCACCACCTGACGGTACA
Band lengths:
139-194
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development