HsaEX0053627 @ hg38
Exon Skipping
Gene
ENSG00000080345 | RIF1
Description
replication timing regulatory factor 1 [Source:HGNC Symbol;Acc:HGNC:23207]
Coordinates
chr2:151435463-151437351:+
Coord C1 exon
chr2:151435463-151435580
Coord A exon
chr2:151436827-151437003
Coord C2 exon
chr2:151437241-151437351
Length
177 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTCTTAAAGGTG
3' ss Score
10.98
5' ss Seq
TAGGTATTT
5' ss Score
5.39
Exon sequences
Seq C1 exon
GTTTGTGTGCCTCTGATTCAAAGTACAATAAGCATTGATTCTAATGCCTCACCTCAGGGCAATTCGTGTCATGTAGCTACATCTCCAGGTTTAAATCCTATGACTCCTGTACACAAAG
Seq A exon
GTGCTTCCTCCCCGTACGGAGCCCCGGGAACTCCCCGAATGAACCTGAGTTCGAATTTAGGTGGAATGGCCACAATCCCATCCATTCAACTTTTGGGACTTGAAATGTTGCTTCATTTCTTGTTGGGTCCAGAAGCCTTGAGTTTTGCTAAGCAAAATAAACTTGTGCTGAGCTTAG
Seq C2 exon
AGCCATTGGAACATCCGTTAATCAGCAGCCCTTCCTTTTTTTCCAAACATGCAAATACACTTATCACTGCTGTTCATGATAGCTTTGTTGCAGTTGGAAAAGATGCCCCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080345_MULTIEX4-3/3=2-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.320 A=0.137 C2=0.000
Domain overlap (PFAM):
C1:
PF122313=Rif1_N=PD(3.9=35.0)
A:
NO
C2:
NO
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:
TGTGTGCCTCTGATTCAAAGT
R:
CGGGGGCATCTTTTCCAACTG
Band lengths:
226-403
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development