Special

HsaEX6044345 @ hg38

Exon Skipping

Gene
Description
formin homology 2 domain containing 1 [Source:HGNC Symbol;Acc:HGNC:17905]
Coordinates
chr16:67233657-67236733:-
Coord C1 exon
chr16:67236557-67236733
Coord A exon
chr16:67234357-67234472
Coord C2 exon
chr16:67233657-67234267
Length
116 bp
Sequences
Splice sites
3' ss Seq
TGACAAGCACCTTCCCTCAGAGC
3' ss Score
4.8
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
CCCCACAGGCCCCGCCTCACCGGTAGGCCCCACCTCTTCCACCGGCCCCGCCCTGCTGACAGGCCCCGCCTCCAGCCCTGTGGGCCCTCCCTCCGGTCTCCAAGCTTCAGTGAACCTTTTTCCTACCATCTCTGTGGCACCCTCAGCTGACACCTCCAGCGAGAGGAGCATCTACAA
Seq A exon
AGCCCGGTTCCTGGAGAATGTGGCGGCAGCAGAAACAGAGAAGCAGGTTGCGCTGGCCCAGGGCCGGGCAGAGACACTTGCCGGGGCCATGCCCAATGAGGCGGGTGGACACCCAG
Seq C2 exon
ATGCCCGGCAACTCTGGGACTCCCCAGAGACAGCCCCTGCAGCCAGAACACCCCAGAGCCCTGCCCCCTGTGTCCTGCTCCGGGCCCAGCGAAGCCTTGCACCAGAGCCCAAGGAGCCACTGATACCAGCAAGCCCCAAGGCTGAGCCCATCTGGGAGCTCCCTACCCGTGCACCCAGGCTCTCTATTGGGGACCTGGACTTTTCAGATCTAGGGGAGGATGAAGACCAGGACATGCTGAATGTAGAGTCTGTGGAGGCTGGGAAAGACATCCCAGCTCCCTCACCCCCACTGCCCCTGCTCTCGGGAGTACCCCCCCCTCCCCCACTTCCACCTCCCCCACCCATCAAAGGCCCCTTCCCACCACCTCCACCTCTACCTCTGGCTGCCCCTCTTCCCCATTCAGTGCCTGACAGCTCAGCCCTCCCCACTAAGAGGAAGACAGTAAAACTTTTCTGGCGTGAGCTGAAGCTGGCTGGGGGCCATGGAGTCTCTGCAAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135723-'17-31,'17-30,20-31
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.943 A=0.911 C2=0.685
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0218118=FH2=PU(17.7=32.4)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000568595fB2730


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCAGCGAGAGGAGCATCTAC
R:
TGTCCTGGTCTTCATCCTCCC
Band lengths:
257-373
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains