HsaEX0053617 @ hg38
Exon Skipping
Gene
ENSG00000080345 | RIF1
Description
replication timing regulatory factor 1 [Source:HGNC Symbol;Acc:HGNC:23207]
Coordinates
chr2:151468641-151469864:+
Coord C1 exon
chr2:151468641-151468756
Coord A exon
chr2:151469054-151469107
Coord C2 exon
chr2:151469711-151469864
Length
54 bp
Sequences
Splice sites
3' ss Seq
ATATCATTTCTACTTTATAGGAT
3' ss Score
9.05
5' ss Seq
CATGTAAGA
5' ss Score
5.58
Exon sequences
Seq C1 exon
ATTTCAGAAATGGCCAAAGAATCCATACCATGCCCAACAGAAAGTGTTTACCCACCATTGGTGAACTGTGTGGCACCAGTTGACATCATTTTACCTCAGATTACATCAAACATGTG
Seq A exon
GATGAAGTTTACAAAGATTACCAGCAAAACCACACAGCTGTTAAGTCATCACAT
Seq C2 exon
GGCAAGAGGCCTGGGACAACTCATTAGAGCTAAGAATATAAAAACTATTGGTGATTTGAGTACTCTTACAGCATCTGAAATAAAAACTCTTCCTATCCGTTCTCCAAAAGTGTCCAATGTAAAAAAGGCTCTCAGAATATATCATGAGCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080345_CASSETTE8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.057 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000444746fB5922
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
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:
GCCAAAGAATCCATACCATGCC
R:
GCTCTAATGAGTTGTCCCAGGC
Band lengths:
134-188
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