HsaEX0053614 @ hg38
Exon Skipping
Gene
ENSG00000080345 | RIF1
Description
replication timing regulatory factor 1 [Source:HGNC Symbol;Acc:HGNC:23207]
Coordinates
chr2:151420190-151428922:+
Coord C1 exon
chr2:151420190-151420379
Coord A exon
chr2:151422950-151423042
Coord C2 exon
chr2:151428784-151428922
Length
93 bp
Sequences
Splice sites
3' ss Seq
TTAATTGCTTTTGTTTGCAGAAA
3' ss Score
9.42
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
GCTAATTGAACAAGCCCCAATTCAAATGGGAGAAGAGGCAGTGAGGTGGGCAAAACTGGTCATACCTTTAGTGGTTCATTCAGCACAAAAGGTACATTTGCGGGGAGCAACTGCTCTGGAGATGGGAATGCCATTATTGCTTCAGAAACAGCAAGAAATAGCATCTATTACGGAGCAGCTTATGACTACT
Seq A exon
AAATTAATCTCAGAACTTCAGAAGCTATTTATGAGTAAAAATGAGACTTACGTGTTAAAATTATGGCCTTTGTTTGTCAAACTACTTGGAAGG
Seq C2 exon
ACCTTGCATCGAAGTGGGAGTTTCATCAATTCTCTCTTGCAACTAGAAGAACTTGGATTTCGTAGTGGAGCACCCATGATTAAAAAGATAGCTTTTATTGCTTGGAAGAGTTTAATAGATAATTTTGCTTTAAATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080345_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF122313=Rif1_N=FE(17.6=100)
A:
PF122313=Rif1_N=FE(8.4=100)
C2:
PF122313=Rif1_N=FE(12.8=100)

Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGTGGGCAAAACTGGTCAT
R:
AACTCCCACTTCGATGCAAGG
Band lengths:
170-263
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