HsaEX0025787 @ hg38
Exon Skipping
Gene
ENSG00000134775 | FHOD3
Description
formin homology 2 domain containing 3 [Source:HGNC Symbol;Acc:HGNC:26178]
Coordinates
chr18:36625511-36681570:+
Coord C1 exon
chr18:36625511-36625749
Coord A exon
chr18:36658075-36658188
Coord C2 exon
chr18:36681436-36681570
Length
114 bp
Sequences
Splice sites
3' ss Seq
TAAACCTCTGCACTTCTTAGATA
3' ss Score
5.67
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GTGGCGCTCAGGCACGAGGATGGCGATGAGACCACGGAGCCACCCCCCAGTGGGTGCCGGGACCGGAGGAGGGCCAGCGTGTGTTCCAGTGGCGGAGGCGAGCACCGGGGCCTGGACCGCAGAAGGAGCCGCAGGCACTCGGTGCAGAGCATCAAGAGCACCCTGTCGGCCCCCACCAGTCCCTGCTCCCAGTCAGCTCCCAGCTTCAAGCCCAACCAAGTGCGAGATCTGCGTGAAAA
Seq A exon
ATACAGCAATTTTGGCAATAACTCTTATCACTCCTCAAGACCCTCATCTGGATCCAGTGTGCCCACCACCCCCACATCATCCGTCTCACCCCCACAGGAGGCCAGGTTGGAAAG
Seq C2 exon
GTCATCACCGAGTGGTCTTCTCACATCATCCTTCAGGCAGCACCAAGAGTCACTGGCAGCAGAGAGAGAGAGGCGGCGGCAGGAGAGAGAAGAAAGGTTGCAGAGAATAGAGCGGGAAGAAAGAAACAAATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134775_MULTIEX2-4/18=C1-5
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.953 A=0.925 C2=0.998
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGTGTTCCAGTGGCGGAG
R:
CTTTCTTCTCTCTCCTGCCGC
Band lengths:
257-371
Functional annotations
There are 1 annotated functions for this event
PMID: 32249828
[CRISPR screen]. This alternative exon is implicated in cell fitness by a CRISPR-based exon deletion phenotypic screen in RPE-1 cells.
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