Special

HsaEX0053609 @ hg19

Exon Skipping

Gene
Description
RAP1 interacting factor homolog (yeast) [Source:HGNC Symbol;Acc:23207]
Coordinates
chr2:152324514-152325065:+
Coord C1 exon
chr2:152324514-152324660
Coord A exon
chr2:152324804-152324823
Coord C2 exon
chr2:152324988-152325065
Length
20 bp
Sequences
Splice sites
3' ss Seq
GTCTGGTACACGGTAAGCAGAAA
3' ss Score
-2.47
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
GTTCGCCGTGTCTCCTTTGCAGATCCAATATACCAAGCAGGATTGGCAGATGACATTGATAGACGGTGCTCTATTGTTAGGTCCCATTCTTCCAATAGTTCTCCCATAGGAAAAAGTGTTAAAACTTCTCCTACTACACAATCTAAG
Seq A exon
AAAGGAAGAGAAGCAGAAAG
Seq C2 exon
CATAATACCACTTCAGCCAAAGGATTTCTGTCCCCAGGATCACGTAGCCCTAAATTTAAGAGCTCAAAGAAGTGTTTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080345-'36-38,'36-37,37-38
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

No structure available
Features
Disorder rate (Iupred):
  C1=0.360 A=1.000 C2=0.503
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGTGCTCTATTGTTAGGTCCC
R:
GGGACAGAAATCCTTTGGCTGA
Band lengths:
118-138
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