HsaEX0053613 @ hg38
Exon Skipping
Gene
ENSG00000080345 | RIF1
Description
replication timing regulatory factor 1 [Source:HGNC Symbol;Acc:HGNC:23207]
Coordinates
chr2:151409883-151411338:+
Coord C1 exon
chr2:151409883-151410033
Coord A exon
chr2:151410414-151410527
Coord C2 exon
chr2:151411260-151411338
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=0.873 C2=0.170
Domain overlap (PFAM):
C1:
PF122313=Rif1_N=PU(4.7=65.4)
A:
PF122313=Rif1_N=PU(5.0=51.4)
C2:
PF122313=Rif1_N=FE(7.3=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
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