HsaINT0062524 @ hg38
Intron Retention
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8145843-8146225:-
Coord C1 exon
chr19:8146127-8146225
Coord A exon
chr19:8145939-8146126
Coord C2 exon
chr19:8145843-8145938
Length
188 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
TCCTGCCTTCCTGTCCCCAGGGT
3' ss Score
11.68
Exon sequences
Seq C1 exon
CCATCTGTAGGCGCGCCTGCGGTGAAGGCTTCTGCTCCCAGCCCAACCTGTGCACCTGTGCGGATGGGACGCTGGCTCCCAGCTGCGGGGTGAGCCGAG
Seq A exon
GTGAGCGGGAAGCGGCCTCTTGCGGGAGGGAGAAGAAGTTCACAGGGTTCTGGTTGCCACGAGGAGCCTGGGCTGCTTTTGTTGAAGGACAGGAGCGGGGCTGAGCATGCCTAGTCCTGCAGCCTTCCTAGGAGGGCATCTCGGGGCCCATCTCCACATTACTATGCGTCCTGCCTTCCTGTCCCCAG
Seq C2 exon
GGTCAGGGTGCAGTGTGAGCTGTATGAATGGGGGCACCTGCCGGGGGGCGTCCTGTCTGTGTCAGAAGGGCTACACAGGCACCGTGTGTGGGCAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449:ENST00000600128:4
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:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGCGGTGAAGGCTTCTG
R:
CACACACGGTGCCTGTGTAG
Band lengths:
174-362
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development