Special

HsaEX6092582 @ hg19

Exon Skipping

Gene
Description
fibrillin 3 [Source:HGNC Symbol;Acc:18794]
Coordinates
chr19:8167608-8171117:-
Coord C1 exon
chr19:8170992-8171117
Coord A exon
chr19:8168446-8168571
Coord C2 exon
chr19:8167608-8167757
Length
126 bp
Sequences
Splice sites
3' ss Seq
CACCCCTTCTTTCCCTGCAGATA
3' ss Score
13.61
5' ss Seq
TGGGTAAGA
5' ss Score
8.91
Exon sequences
Seq C1 exon
ACATCGACGAGTGCCAAGAGCTGCCAGGGCTGTGTCAGGGGGGTGACTGCGTCAACACGTTTGGCAGTTTCCAGTGTGAGTGCCCACCTGGCTACCACCTCAGTGAGCACACCCGCATCTGTGAGG
Seq A exon
ATATTGACGAATGCTCCACACACTCCGGCATCTGTGGCCCTGGCACCTGCTACAACACCCTGGGGAACTACACCTGTGTCTGCCCTGCAGAGTACCTCCAAGTCAATGGTGGCAACAACTGCATGG
Seq C2 exon
ATATGAGGAAGAGTGTCTGCTTCCGGCACTATAACGGCACATGTCAAAATGAGCTGGCCTTCAACGTGACCCGGAAAATGTGTTGCTGCTCCTACAACATTGGCCAGGCCTGGAATAGACCCTGTGAGGCCTGCCCCACTCCCATCAGTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-'36-37,'36-36,37-37=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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.3)
C2:
PF0068312=TB=PU(86.4=74.5)


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:
CATCGACGAGTGCCAAGAGC
R:
AGGCCTCACAGGGTCTATTCC
Band lengths:
257-383
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains