Special

HsaEX6044349 @ hg19

Exon Skipping

Gene
Description
formin homology 2 domain containing 1 [Source:HGNC Symbol;Acc:17905]
Coordinates
chr16:67264217-67265252:-
Coord C1 exon
chr16:67265091-67265252
Coord A exon
chr16:67264504-67264694
Coord C2 exon
chr16:67264217-67264409
Length
191 bp
Sequences
Splice sites
3' ss Seq
GCACCCCCTTGCTTTCTCAGGTG
3' ss Score
9.77
5' ss Seq
TAGGTAGGG
5' ss Score
6.53
Exon sequences
Seq C1 exon
AGCAGCGGCTTTGAGCTGAGCTACCTGGAGAAGGTGTCAGAGGTGAAGGACACGGTGCGTCGACAGTCACTGCTACACCATCTCTGCTCCCTAGTGCTCCAGACCCGGCCTGAGTCCTCTGACCTCTATTCAGAAATCCCTGCCCTGACCCGCTGTGCCAAG
Seq A exon
GTGGACTTTGAACAGCTGACTGAGAACCTGGGGCAGCTGGAGCGCCGGAGCCGGGCAGCCGAGGAGAGCCTGCGGAGCTTGGCCAAGCATGAGCTGGCCCCAGCCCTGCGTGCCCGCCTCACCCACTTCCTGGACCAGTGTGCCCGCCGTGTTGCCATGCTAAGGATAGTGCACCGCCGTGTCTGCAATAG
Seq C2 exon
GTTCCATGCCTTCCTGCTCTACCTGGGCTACACCCCGCAGGCGGCCCGTGAAGTGCGCATCATGCAGTTCTGCCACACGCTGCGGGAATTTGCGCTTGAGTATCGGACTTGCCGGGAACGAGTGCTACAGCAGCAGCAGAAGCAGGCCACATACCGTGAGCGCAACAAGACCCGGGGACGCATGATCACCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135723-'26-29,'26-28,27-29=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=0.000 A=0.000 C2=0.338
Domain overlap (PFAM):

C1:
PF0218118=FH2=FE(14.2=100)
A:
PF0218118=FH2=FE(16.9=100)
C2:
PF0218118=FH2=PD(9.4=53.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATCTCTGCTCCCTAGTGCT
R:
TCTTGTTGCGCTCACGGTATG
Band lengths:
255-446
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains