HsaEX6038705 @ hg38
Exon Skipping
Gene
ENSG00000134775 | FHOD3
Description
formin homology 2 domain containing 3 [Source:HGNC Symbol;Acc:HGNC:26178]
Coordinates
chr18:36687128-36755311:+
Coord C1 exon
chr18:36687128-36687178
Coord A exon
chr18:36693209-36693423
Coord C2 exon
chr18:36755119-36755311
Length
215 bp
Sequences
Splice sites
3' ss Seq
CTTTGGAATTTAACTTTCAGATA
3' ss Score
8.57
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
CCGAGATTATTTAGACAAAAGAGAGGAGCAAAGGCAAGCAAGAGAAGAAAG
Seq A exon
ATACAAATACTTGGAACAGTTGGCAGCTGAGGAGCACGAGAAGGAGCTGAGAAGCCGGAGTGTGAGCCGGGGCAGAGCCGACCTCTCCTTGGACCTGACCTCGCCAGCAGCCCCAGCCTGCCTGGCTCCTCTGAGCCATAGCCCCTCATCTTCAGACTCTCAAGAGGCTCTCACGGTGTCTGCCTCCTCCCCAGGAACCCCTCACCATCCCCAAG
Seq C2 exon
ATTCCACTCCTTTTTACTCTTTATGGGCCATCCACCTTATGCAATTCGGGAAGTGAACATAAACAAATTCTGCAGGATTATTAGTGAATTTGCACTAGAGTATCGCACAACCAGGGAAAGGGTTTTGCAGCAGAAACAGAAACGGGCCAACCACAGAGAGAGAAATAAGACCAGAGGGAAGATGATCACCGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134775_MULTIEX2-7/18=6-15
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=0.366
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0218118=FH2=PD(12.2=53.8)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGAGATTATTTAGACAAAAGAGAGG
R:
ATCGGTGATCATCTTCCCTCTGG
Band lengths:
244-459
Functional annotations
There are 1 annotated functions for this event
PMID: 26538579
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: protein array. ELM ID: ELMI003100; ELM sequence: RADLSLDLT; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains