HsaEX0053616 @ hg38
Exon Skipping
Gene
ENSG00000080345 | RIF1
Description
replication timing regulatory factor 1 [Source:HGNC Symbol;Acc:HGNC:23207]
Coordinates
chr2:151468000-151468756:+
Coord C1 exon
chr2:151468000-151468146
Coord A exon
chr2:151468474-151468551
Coord C2 exon
chr2:151468641-151468756
Length
78 bp
Sequences
Splice sites
3' ss Seq
CTCTCCTTTCTTCTATCTAGCAT
3' ss Score
8.94
5' ss Seq
TTAGTAAGA
5' ss Score
3.78
Exon sequences
Seq C1 exon
GTTCGCCGTGTCTCCTTTGCAGATCCAATATACCAAGCAGGATTGGCAGATGACATTGATAGACGGTGCTCTATTGTTAGGTCCCATTCTTCCAATAGTTCTCCCATAGGAAAAAGTGTTAAAACTTCTCCTACTACACAATCTAAG
Seq A exon
CATAATACCACTTCAGCCAAAGGATTTCTGTCCCCAGGATCACGTAGCCCTAAATTTAAGAGCTCAAAGAAGTGTTTA
Seq C2 exon
ATTTCAGAAATGGCCAAAGAATCCATACCATGCCCAACAGAAAGTGTTTACCCACCATTGGTGAACTGTGTGGCACCAGTTGACATCATTTTACCTCAGATTACATCAAACATGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080345_CASSETTE7
Average complexity
S*
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.361 A=0.506 C2=0.057
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGTGCTCTATTGTTAGGTCCC
R:
TCAACTGGTGCCACACAGTTC
Band lengths:
167-245
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