Special

HsaEX6092568 @ hg19

Exon Skipping

Gene
Description
fibrillin 3 [Source:HGNC Symbol;Acc:18794]
Coordinates
chr19:8201272-8203448:-
Coord C1 exon
chr19:8203296-8203448
Coord A exon
chr19:8203025-8203207
Coord C2 exon
chr19:8201272-8201415
Length
183 bp
Sequences
Splice sites
3' ss Seq
TCAACCCTGCTTCCTTGCAGATG
3' ss Score
10.43
5' ss Seq
TTGGTGAGG
5' ss Score
6.9
Exon sequences
Seq C1 exon
ACTACCGGGCCGGCGCCTGCTTCTCAGTGCTTTTCGGGGGCCGCTGTGCTGGAGACCTCGCCGGCCACTACACTCGCAGGCAGTGCTGCTGTGACAGGGGCAGGTGCTGGGCAGCTGGCCCGGTCCCTGAGCTGTGTCCTCCTCGGGGCTCCA
Seq A exon
ATGAATTCCAGCAACTGTGCGCCCAGCGGCTGCCGCTGCTACCCGGCCACCCTGGCCTCTTCCCTGGCCTCCTGGGCTTCGGATCCAATGGCATGGGTCCCCCTCTTGGGCCAGCGCGACTCAACCCCCATGGCTCTGATGCGCGTGGGATCCCCAGCCTGGGCCCTGGCAACTCTAATATTG
Seq C2 exon
GCACTGCTACCCTGAACCAGACCATTGACATCTGCCGACACTTCACCAACCTGTGTCTGAATGGCCGCTGCCTGCCCACGCCTTCCAGCTACCGCTGCGAGTGTAACGTGGGCTACACCCAGGACGTGCGCGGCGAGTGCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'7-8,'7-7,8-8=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.339 C2=0.000
Domain overlap (PFAM):

C1:
PF0068312=TB=PU(86.4=73.1)
A:
PF0068312=TB=PD(11.4=8.1)
C2:
PF0000822=EGF=WD(100=59.2),PF0764510=EGF_CA=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTTCTCAGTGCTTTTCGGG
R:
GTAGCCCACGTTACACTCGC
Band lengths:
252-435
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains