Special

HsaEX6044346 @ hg19

Exon Skipping

Gene
Description
formin homology 2 domain containing 1 [Source:HGNC Symbol;Acc:17905]
Coordinates
chr16:67265942-67268375:-
Coord C1 exon
chr16:67268260-67268375
Coord A exon
chr16:67267560-67268170
Coord C2 exon
chr16:67265942-67266097
Length
611 bp
Sequences
Splice sites
3' ss Seq
AGCTCCTTCCCTTTCTTTAGATG
3' ss Score
9.02
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
AGCCCGGTTCCTGGAGAATGTGGCGGCAGCAGAAACAGAGAAGCAGGTTGCGCTGGCCCAGGGCCGGGCAGAGACACTTGCCGGGGCCATGCCCAATGAGGCGGGTGGACACCCAG
Seq A exon
ATGCCCGGCAACTCTGGGACTCCCCAGAGACAGCCCCTGCAGCCAGAACACCCCAGAGCCCTGCCCCCTGTGTCCTGCTCCGGGCCCAGCGAAGCCTTGCACCAGAGCCCAAGGAGCCACTGATACCAGCAAGCCCCAAGGCTGAGCCCATCTGGGAGCTCCCTACCCGTGCACCCAGGCTCTCTATTGGGGACCTGGACTTTTCAGATCTAGGGGAGGATGAAGACCAGGACATGCTGAATGTAGAGTCTGTGGAGGCTGGGAAAGACATCCCAGCTCCCTCACCCCCACTGCCCCTGCTCTCGGGAGTACCCCCCCCTCCCCCACTTCCACCTCCCCCACCCATCAAAGGCCCCTTCCCACCACCTCCACCTCTACCTCTGGCTGCCCCTCTTCCCCATTCAGTGCCTGACAGCTCAGCCCTCCCCACTAAGAGGAAGACAGTAAAACTTTTCTGGCGTGAGCTGAAGCTGGCTGGGGGCCATGGAGTCTCTGCAAGCCGCTTTGGGCCCTGCGCCACCCTCTGGGCTTCACTGGACCCTGTCTCAGTGGACACGGCCCGACTGGAACACCTCTTTGAGTCTCGTGCCAAAGAGGTGCTGCCCTCCAAG
Seq C2 exon
AAAGCTGGAGAGGGCCGCCGGACAATGACCACAGTGCTGGACCCCAAGCGCAGCAACGCCATCAACATCGGCCTAACCACACTGCCACCTGTGCATGTCATTAAGGCTGCTCTGCTCAACTTTGATGAGTTTGCTGTCAGCAAGGATGGCATTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135723-'19-22,'19-20,20-22=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.933 A=0.703 C2=0.269
Domain overlap (PFAM):

C1:
NO
A:
PF0218118=FH2=PU(17.7=32.4)
C2:
PF0218118=FH2=FE(13.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCCGGTTCCTGGAGAATG
R:
TCAATGCCATCCTTGCTGACA
Band lengths:
271-882
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains