Special

HsaEX0053613 @ hg19

Exon Skipping

Gene
Description
RAP1 interacting factor homolog (yeast) [Source:HGNC Symbol;Acc:23207]
Coordinates
chr2:152266397-152267852:+
Coord C1 exon
chr2:152266397-152266547
Coord A exon
chr2:152266928-152267041
Coord C2 exon
chr2:152267774-152267852
Length
114 bp
Sequences
Splice sites
3' ss Seq
TCTTCCGGTTCGGGCCTCAGGGT
3' ss Score
7.59
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
CGCACTCCTGGGCCCGCCCAGCCGCCATCTTGGTCTAGGAGGGAGCGCGCCGCACGCGTGAGTAAACAGCCGGAGCTGGGAAAGTCGAGCTCTGGCAGCGTCTGGGTGCTGAGGGGCAGAGGCGGAGAGAACCCTGTCCTGATCTTCCTAG
Seq A exon
GGTGGCCGACATGACGGCCAGGGGTCAGAGCCCCCTCGCGCCGCTGTTGGAGACTTTGGAAGACCCTTCTGCCTCCCATGGAGGGCAGACTGACGCTTACCTGACTCTGACCAG
Seq C2 exon
TCGTATGACTGGAGAAGAAGGAAAAGAAGTAATTACAGAAATTGAGAAAAAACTTCCTCGGCTGTACAAAGTTTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080345_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. ATG (>10 exons))

No structure available
Features
Disorder rate (Iupred):
  C1=0.481 A=0.879 C2=0.173
Domain overlap (PFAM):

C1:
PF122313=Rif1_N=PU(4.7=65.4)
A:
PF032249=V-ATPase_H_N=PU(23.1=94.3),PF122313=Rif1_N=PU(8.2=51.4)
C2:
PF032249=V-ATPase_H_N=FE(30.2=100),PF122313=Rif1_N=FE(36.6=100),PF053776=FlaC_arch=PU(48.5=59.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGCCGCCATCTTGGTCTAG
R:
TAAAACTTTGTACAGCCGAGGAAGT
Band lengths:
210-324
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development