Special

HsaEX6044348 @ hg38

Exon Skipping

Gene
Description
formin homology 2 domain containing 1 [Source:HGNC Symbol;Acc:HGNC:17905]
Coordinates
chr16:67231188-67231819:-
Coord C1 exon
chr16:67231637-67231819
Coord A exon
chr16:67231430-67231549
Coord C2 exon
chr16:67231188-67231349
Length
120 bp
Sequences
Splice sites
3' ss Seq
TCCCTGGTCTCCCATACCAGGAA
3' ss Score
8.54
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
AAGCTACTGACCATGATGCCCACGGAGGAAGAGCGGCAGAAGATTGAGGAAGCCCAGCTGGCCAACCCTGACATACCCCTGGGCCCAGCCGAGAACTTCCTGATGACTCTTGCCTCCATTGGCGGCCTCGCTGCTCGTCTACAACTCTGGGCCTTCAAGCTGGACTATGACAGCATGGAGCGG
Seq A exon
GAAATTGCTGAGCCACTGTTTGACCTGAAAGTGGGTATGGAACAGCTGGTACAGAATGCCACCTTCCGCTGCATCCTGGCTACCCTCCTAGCGGTGGGCAACTTCCTCAATGGCTCCCAG
Seq C2 exon
AGCAGCGGCTTTGAGCTGAGCTACCTGGAGAAGGTGTCAGAGGTGAAGGACACGGTGCGTCGACAGTCACTGCTACACCATCTCTGCTCCCTAGTGCTCCAGACCCGGCCTGAGTCCTCTGACCTCTATTCAGAAATCCCTGCCCTGACCCGCTGTGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135723-'29-48,'29-45,31-48=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.280 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0218118=FH2=PD(17.1=81.8)
A:
PF0218118=FH2=FE(10.5=100)
C2:
PF0218118=FH2=FE(14.2=100)


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)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCAGAAGATTGAGGAAGCCC
R:
AGCACTAGGGAGCAGAGATGG
Band lengths:
247-367
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains