Special

HsaEX0025787 @ hg19

Exon Skipping

Gene
Description
formin homology 2 domain containing 3 [Source:HGNC Symbol;Acc:26178]
Coordinates
chr18:34205474-34261533:+
Coord C1 exon
chr18:34205474-34205712
Coord A exon
chr18:34238038-34238151
Coord C2 exon
chr18:34261399-34261533
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_MULTIEX4-3/3=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.939 A=0.982 C2=0.997
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
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
This event
[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