Special

HsaEX0025098 @ hg38

Exon Skipping

Gene
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8097289-8102873:-
Coord C1 exon
chr19:8102724-8102873
Coord A exon
chr19:8100901-8100972
Coord C2 exon
chr19:8097289-8097414
Length
72 bp
Sequences
Splice sites
3' ss Seq
CTTTGTTCCCCTTTGCGCAGCTG
3' ss Score
8.56
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
Exon sequences
Seq C1 exon
ATATGAGGAAGAGTGTCTGCTTCCGGCACTATAACGGCACATGTCAAAATGAGCTGGCCTTCAACGTGACCCGGAAAATGTGTTGCTGCTCCTACAACATTGGCCAGGCCTGGAATAGACCCTGTGAGGCCTGCCCCACTCCCATCAGTC
Seq A exon
CTGACTACCAGATCCTGTGTGGAAATCAGGCCCCGGGATTCCTCACTGACATCCACACGGGGAAGCCCCTTG
Seq C2 exon
ACATTGATGAGTGTGGGGAGATCCCCGCCATCTGTGCCAATGGCATCTGCATAAACCAGATCGGGAGTTTCCGCTGCGAGTGCCCCGCAGGCTTCAACTACAACAGCATCCTGCTGGCTTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'64-61,'64-58,65-61
Average complexity
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:
PF0068312=TB=PU(86.4=74.5)
A:
PF0068312=TB=PD(11.4=20.0),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.3),PF062476=Plasmod_Pvs28=PU(29.2=81.4),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
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTGCTCCTACAACATTGGC
R:
TGTTGTAGTTGAAGCCTGCGG
Band lengths:
172-244
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development