HsaINT0062535 @ hg38
Intron Retention
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8144877-8145938:-
Coord C1 exon
chr19:8145843-8145938
Coord A exon
chr19:8144973-8145842
Coord C2 exon
chr19:8144877-8144972
Length
870 bp
Sequences
Splice sites
5' ss Seq
AGCGTGAGT
5' ss Score
8.2
3' ss Seq
TCACCCTCTCTCCTCCACAGCCA
3' ss Score
10.87
Exon sequences
Seq C1 exon
GGTCAGGGTGCAGTGTGAGCTGTATGAATGGGGGCACCTGCCGGGGGGCGTCCTGTCTGTGTCAGAAGGGCTACACAGGCACCGTGTGTGGGCAGC
Seq A exon
GTGAGTATCCCCATGGGACTCCCCTCTTTGCACACCTGGGACTGTGATCCCAGAGTATTAGTCTCTGCTGCCACCTGCCCACTGCCCAGGGTTCCTTCTTCCTGGACTGGAGATTGCAGGGGACGTTTATTGCCACAGTCTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACTCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCTTGCCTGACTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCGTGCCCGGCCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCACCATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTTGAACAATTCTTCTGTGTCAGCCTCCTGAGTAGCTGGGATTAAAAGAGCCGGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAAAGATGGGGTTTCACTATATTGGACAGGCTGGTCTCGAACCCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGCGCTCGGATTACAGGCGCTAGCCACTCAGCTCAGCCTCAGTCTTATTCAACCTGGGCCAGATCCTGGGGATTCCTGGGTGAAGACAGGCTTGCTGTGAACCCCAGCTCTCTCTGCTGCTGGGGGACCTCCAGCCATCACCCTCTCTCCTCCACAG
Seq C2 exon
CCATCTGTGACCGCGGCTGCCACAATGGGGGTCGCTGCATTGGGCCCAACCGCTGCGCCTGTGTGTATGGCTTCATGGGACCTCAATGTGAGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449:ENST00000600128:5
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
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAGGGTGCAGTGTGAGC
R:
TCTCTCACATTGAGGTCCCATGA
Band lengths:
190-1060
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