Special

HsaEX0025040 @ hg38

Exon Skipping

Gene
Description
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
Coordinates
chr15:48463082-48465693:-
Coord C1 exon
chr15:48465568-48465693
Coord A exon
chr15:48463899-48464021
Coord C2 exon
chr15:48463082-48463240
Length
123 bp
Sequences
Splice sites
3' ss Seq
ACTTTCTCTTTGGATTATAGATG
3' ss Score
7.37
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
ATATTGATGAGTGCCAGGAGCTACCAGGGCTGTGCCAAGGAGGAAAATGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAATGAAGATACACGAGTGTGTGATG
Seq A exon
ATGTGAATGAATGTGAGACTCCTGGAATCTGTGGTCCAGGGACATGTTACAACACCGTTGGCAACTACACCTGTATCTGTCCTCCAGACTACATGCAAGTGAATGGGGGAAATAATTGCATGG
Seq C2 exon
ATATGAGAAGAAGTTTGTGCTACAGAAACTACTATGCTGACAACCAGACCTGTGATGGAGAATTGTTATTCAACATGACCAAGAAGATGTGCTGCTGTTCCTACAACATTGGCCGGGCGTGGAACAAGCCCTGTGAACAGTGTCCCATCCCAAGTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166147-'68-61,'68-60,70-61
Average complexity
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=PU(95.2=97.6)
C2:
PF0764510=EGF_CA=PD(0.1=0.0),PF0068312=TB=PU(84.1=69.8)


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:
TGAGTGCCAGGAGCTACCAG
R:
TGTTCACAGGGCTTGTTCCAC
Band lengths:
258-381
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