Special

HsaEX6044349 @ hg38

Exon Skipping

Gene
Description
formin homology 2 domain containing 1 [Source:HGNC Symbol;Acc:HGNC:17905]
Coordinates
chr16:67230314-67231349:-
Coord C1 exon
chr16:67231188-67231349
Coord A exon
chr16:67230601-67230791
Coord C2 exon
chr16:67230314-67230506
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-'33-53,'33-52,35-53=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:
NA


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