HsaINT0062514 @ hg38
Intron Retention
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8125892-8126347:-
Coord C1 exon
chr19:8126297-8126347
Coord A exon
chr19:8126018-8126296
Coord C2 exon
chr19:8125892-8126017
Length
279 bp
Sequences
Splice sites
5' ss Seq
ATGGTAACT
5' ss Score
6.06
3' ss Seq
TTTCCCTCCTCCTTACCCAGATG
3' ss Score
10.25
Exon sequences
Seq C1 exon
ACCCTGCCTGTGCCCGGGGCTTTGCCCGGATGACGGGTGTCACCTGCGATG
Seq A exon
GTAACTGCCTGCCCGTGTCCAGCTCACCCCCTACTCCAGAGCCCGCACACAACCAGGCGCACCACCCTCATGGGTGCCACCTCCGGCCCCGCCCTGGAGTCTTTTGCGATGGGGACAGACGTTCTCCCTACCTGGTCCCCAGGCCTTCTTGAAAGTCCCCAGTCCCCGTGTCCCCGTCCCCTTCCTTCCTCCTCAAGGACAACTTGAGACCCCAGGGGAATGGCCAGCCAGCACCCTTCCCCTCCCTGGACCCTCCGGCTTTCCCTCCTCCTTACCCAG
Seq C2 exon
ATGTGAACGAGTGTGAGTCCTTCCCGGGAGTCTGTCCCAACGGGCGTTGCGTCAACACTGCTGGGTCTTTCCGCTGTGAGTGTCCAGAGGGCCTGATGCTGGACGCCTCAGGCCGGCTGTGCGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449:ENST00000600128:21
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0068312=TB=PD(17.1=38.9),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTTTGCCCGGATGACG
R:
CATCAGGCCCTCTGGACACTC
Band lengths:
132-411
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