HsaEX0053609 @ hg38
Exon Skipping
Gene
ENSG00000080345 | RIF1
Description
replication timing regulatory factor 1 [Source:HGNC Symbol;Acc:HGNC:23207]
Coordinates
chr2:151468000-151468551:+
Coord C1 exon
chr2:151468000-151468146
Coord A exon
chr2:151468290-151468309
Coord C2 exon
chr2:151468474-151468551
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-'49-58,'49-57,50-58
Average complexity
C2
Mappability confidence:
NA
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.361 A=1.000 C2=0.506
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000444746fB31276
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
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:
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