Special

HsaEX6044347 @ hg38

Exon Skipping

Gene
Description
formin homology 2 domain containing 1 [Source:HGNC Symbol;Acc:HGNC:17905]
Coordinates
chr16:67231637-67234267:-
Coord C1 exon
chr16:67233657-67234267
Coord A exon
chr16:67232039-67232194
Coord C2 exon
chr16:67231637-67231819
Length
156 bp
Sequences
Splice sites
3' ss Seq
CCCTTCCCCCAACCATGCAGAAA
3' ss Score
6.74
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
AGGAGCCACTGATACCAGCAAGCCCCAAGGCTGAGCCCATCTGGGAGCTCCCTACCCGTGCACCCAGGCTCTCTATTGGGGACCTGGACTTTTCAGATCTAGGGGAGGATGAAGACCAGGACATGCTGAATGTAGAGTCTGTGGAGGCTGGGAAAGACATCCCAGCTCCCTCACCCCCACTGCCCCTGCTCTCGGGAGTACCCCCCCCTCCCCCACTTCCACCTCCCCCACCCATCAAAGGCCCCTTCCCACCACCTCCACCTCTACCTCTGGCTGCCCCTCTTCCCCATTCAGTGCCTGACAGCTCAGCCCTCCCCACTAAGAGGAAGACAGTAAAACTTTTCTGGCGTGAGCTGAAGCTGGCTGGGGGCCATGGAGTCTCTGCAAGCCGCTTTGGGCCCTGCGCCACCCTCTGGGCTTCACTGGACCCTGTCTCAGTGGACACGGCCCGACTGGAACACCTCTTTGAGTCTCGTGCCAAAGAGGTGCTGCCCTCCAAG
Seq A exon
AAAGCTGGAGAGGGCCGCCGGACAATGACCACAGTGCTGGACCCCAAGCGCAGCAACGCCATCAACATCGGCCTAACCACACTGCCACCTGTGCATGTCATTAAGGCTGCTCTGCTCAACTTTGATGAGTTTGCTGTCAGCAAGGATGGCATTGAG
Seq C2 exon
AAGCTACTGACCATGATGCCCACGGAGGAAGAGCGGCAGAAGATTGAGGAAGCCCAGCTGGCCAACCCTGACATACCCCTGGGCCCAGCCGAGAACTTCCTGATGACTCTTGCCTCCATTGGCGGCCTCGCTGCTCGTCTACAACTCTGGGCCTTCAAGCTGGACTATGACAGCATGGAGCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135723-'25-43,'25-37,27-43=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.685 A=0.280 C2=0.280
Domain overlap (PFAM):

C1:
PF0218118=FH2=PU(17.7=32.4)
A:
PF0218118=FH2=FE(13.7=100)
C2:
PF0218118=FH2=PD(17.1=81.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCCCCATTCAGTGCCTGAC
R:
GTGGGCATCATGGTCAGTAGC
Band lengths:
242-398
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains