Special

HsaEX6092584 @ hg19

Exon Skipping

Gene
Description
fibrillin 3 [Source:HGNC Symbol;Acc:18794]
Coordinates
chr19:8161328-8162298:-
Coord C1 exon
chr19:8162173-8162298
Coord A exon
chr19:8161765-8161890
Coord C2 exon
chr19:8161328-8161453
Length
126 bp
Sequences
Splice sites
3' ss Seq
CATTTGCTGTATTTTCCCAGATG
3' ss Score
7.72
5' ss Seq
TGGGTGAGC
5' ss Score
7.23
Exon sequences
Seq C1 exon
ACATTGATGAGTGTGGGGAGATCCCCGCCATCTGTGCCAATGGCATCTGCATAAACCAGATCGGGAGTTTCCGCTGCGAGTGCCCCGCAGGCTTCAACTACAACAGCATCCTGCTGGCTTGTGAAG
Seq A exon
ATGTCGATGAGTGTGGCAGCAGGGAGAGTCCCTGCCAGCAGAATGCTGACTGCATCAACATCCCCGGTAGCTACCGCTGCAAGTGCACCCGAGGGTACAAACTGTCGCCAGGCGGGGCTTGTGTGG
Seq C2 exon
GACGGAATGAGTGTCGGGAGATCCCGAATGTCTGTAGCCATGGTGACTGCATGGACACAGAAGGCAGCTACATGTGTCTGTGTCACCGTGGATTCCAGGCCTCTGCAGACCAGACCCTGTGCATGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'40-41,'40-40,41-41=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0764510=EGF_CA=WD(100=95.3),PF062476=Plasmod_Pvs28=PU(29.2=81.4),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3),PF062476=Plasmod_Pvs28=FE(56.8=100),PF062476=Plasmod_Pvs28=PU(22.2=81.4)
C2:
PF062476=Plasmod_Pvs28=PD(29.7=51.2),PF062476=Plasmod_Pvs28=FE(26.6=100),PF0764510=EGF_CA=WD(100=93.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGATGAGTGTGGGGAGATCC
R:
ACAGGGTCTGGTCTGCAGAG
Band lengths:
243-369
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains