Special

HsaEX0025784 @ hg38

Exon Skipping

Gene
Description
formin homology 2 domain containing 3 [Source:HGNC Symbol;Acc:HGNC:26178]
Coordinates
chr18:36709095-36730804:+
Coord C1 exon
chr18:36709095-36709391
Coord A exon
chr18:36717832-36718715
Coord C2 exon
chr18:36730646-36730804
Length
884 bp
Sequences
Splice sites
3' ss Seq
TCTCTCCCATGTACTTTCAGGTT
3' ss Score
11.63
5' ss Seq
AAGGTACTG
5' ss Score
8.56
Exon sequences
Seq C1 exon
CAAGTGCCGGGGATCCTGAACCCGAATCAGAGGCAGAACCGGAAGCAGAGGCAGGGGCGGGGCAGGTTGCTGATGAAGCTGGCCAGGACATAGCCTCTGCCCACGAGGGTGCAGAGACTGAAGTGGAGCAGGCACTAGAGCAAGAGCCGGAAGAAAGAGCCTCCCTCAGTGAAAAAGAGAGGCAGAACGAGGGGGTGAACGAGAGGGACAACTGCTCTGCCTCCAGCGTCTCGTCCTCCAGCAGCACGTTGGAGAGGGAGGAGAAGGAGGACAAGCTCTCCAGGGACAGGACAACTG
Seq A exon
GTTTGTGGCCCGCAGGTGTCCAGGATGCAGGTGTAAATGGACAGTGTGGCGACATCCTCACCAACAAACGGTTCATGCTTGACATGCTGTATGCCCATAACAGGAAGTCTCCGGATGATGAGGAGAAGGGGGATGGGGAGGCTGGGAGGACCCAGCAGGAGGCAGAGGCGGTAGCCAGCCTTGCTACCAGGATATCCACCCTGCAGGCCAACTCTCAGACCCAGGATGAGAGTGTCAGGAGGGTGGATGTCGGCTGTTTGGACAATCGGGGCAGTGTGAAAGCATTTGCTGAGAAATTCAACAGTGGGGACCTGGGGAGAGGTTCCATCTCCCCTGATGCTGAGCCCAATGACAAGGTCCCAGAAACAGCGCCGGTGCAGCCGAAGACAGAGTCTGATTACATCTGGGACCAGCTCATGGCCAATCCAAGAGAGCTCAGAATCCAAGACATGGATTTCACTGACCTGGGGGAGGAGGATGACATTGATGTCCTAGATGTGGACCTGGGTCACAGGGAGGCCCCTGGGCCACCTCCCCCACCCCCACCCACCTTTCTGGGTTTGCCGCCCCCACCCCCTCCGCCCCTGTTGGACAGCATTCCTCCCCCTCCTGTCCCTGGTAATTTATTGGTTCCTCCTCCTCCAGTGTTCAACGCTCCTCAGGGCTTAGGGTGGTCCCAGGTACCCAGGGGTCAGCCCACATTCACTAAGAAAAAGAAGACCATCCGTTTGTTCTGGAATGAAGTTCGGCCTTTTGACTGGCCATGTAAAAACAACCGACGCTGCAGAGAATTCCTGTGGTCAAAACTGGAACCCATTAAGGTGGACACTTCCAGACTGGAGCACCTGTTTGAGTCTAAATCCAAGGAACTGTCTGTCTCAAAG
Seq C2 exon
AAAACTGCTGCAGATGGAAAAAGGCAAGAGATCATTGTTCTGGATTCCAAGAGGAGTAACGCCATCAATATTGGTCTGACGGTGCTGCCCCCTCCAAGGACGATTAAGATCGCCATTTTGAATTTTGATGAGTATGCCTTAAACAAAGAAGGAATCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134775-'68-68,'68-63,75-68
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.708 C2=0.019
Domain overlap (PFAM):

C1:
NO
A:
PF0218118=FH2=PU(17.2=21.7)
C2:
PF0218118=FH2=FE(14.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
TGAACCCGAATCAGAGGCAGA
R:
TGATGGCGTTACTCCTCTTGGA
Band lengths:
348-1232
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development