HsaEX0053619 @ hg38
Exon Skipping
Gene
ENSG00000080345 | RIF1
Description
replication timing regulatory factor 1 [Source:HGNC Symbol;Acc:HGNC:23207]
Coordinates
chr2:151462412-151468146:+
Coord C1 exon
chr2:151462412-151462466
Coord A exon
chr2:151465854-151466120
Coord C2 exon
chr2:151468000-151468146
Length
267 bp
Sequences
Splice sites
3' ss Seq
TGGAAAGTGATATTTTACAGGAA
3' ss Score
4.19
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GGAAATTCCTACTTTAACCAGAAAACCAAAGGAGGATTCTAAGATGATGATTACG
Seq A exon
GAAGATCACCATACTTCACAGAAAGTGGAGGAACCATCACAGTGTCTGGCATCTGGAACAGCTATCTCTGAGCTAATAATAGAAGACAATAATGCATCTCCTCAAAAACTAAGGGAACTTGATCCTTCACTTGTGTCAGCAAATGACAGTCCTAGTGGCATGCAGACACGCTGTGTCTGGTCTCCTTTGGCTTCTCCGTCTACGAGCATTTTAAAGAGAGGACTAAAAAGATCCCAAGAAGATGAAATCTCATCACCTGTTAATAAG
Seq C2 exon
GTTCGCCGTGTCTCCTTTGCAGATCCAATATACCAAGCAGGATTGGCAGATGACATTGATAGACGGTGCTCTATTGTTAGGTCCCATTCTTCCAATAGTTCTCCCATAGGAAAAAGTGTTAAAACTTCTCCTACTACACAATCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080345_MULTIEX1-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.882 C2=0.361
Domain overlap (PFAM):
C1:
NO
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:
CCTACTTTAACCAGAAAACCAAAGGA
R:
TGTGTAGTAGGAGAAGTTTTAACACT
Band lengths:
188-455
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