HsaINT0062539 @ hg38
Intron Retention
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8095964-8096569:-
Coord C1 exon
chr19:8096444-8096569
Coord A exon
chr19:8096081-8096443
Coord C2 exon
chr19:8095964-8096080
Length
363 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGA
5' ss Score
6.04
3' ss Seq
TCTCGGCTTTGCTTCTGCAGACA
3' ss Score
10.01
Exon sequences
Seq C1 exon
GACGGAATGAGTGTCGGGAGATCCCGAATGTCTGTAGCCATGGTGACTGCATGGACACAGAAGGCAGCTACATGTGTCTGTGTCACCGTGGATTCCAGGCCTCTGCAGACCAGACCCTGTGCATGG
Seq A exon
GTGAGACCCTTATCTTCCCCCTCCTTTTCAAGCCAGGCTGCCTGGGGTCTAAACCTCCCCTGGGATGGAAGTGGTGTTTCTGTCCATCCTAGTTCACAAAGAGATCCAAGTTTGGGTCCTGAGATTAAGATCTTGGGTAAATGGTTGATCTGCCTCCCTGTGCCTCAGTTTTCCCATCTGTAAAATGGGGGTGATATATCATACCAGGAGTACTTCCCAGCCATCACCGCCAGGGGTCACTGCCCAGTCATCTAGGCAGGGCTAGGTGCAGGGGAGGAGTGCTAGGTCCAGCTGGCCTCTCACTCCCCAAGTTCCCCAATGCCCTGGGTGAGCTGGGTTGGGCTCTCGGCTTTGCTTCTGCAG
Seq C2 exon
ACATTGACGAGTGTGACCGGCAGCCTTGTGGAAATGGGACCTGCAAGAACATCATTGGCTCCTACAACTGCCTCTGCTTCCCTGGCTTTGTGGTGACACACAATGGGGATTGTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449:ENST00000600128:44
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:
PF062476=Plasmod_Pvs28=FE(35.0=100),PF0764510=EGF_CA=WD(100=93.0),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF062476=Plasmod_Pvs28=PD(0.1=0.0),PF0764510=EGF_CA=WD(100=95.0),PF0764510=EGF_CA=PU(0.1=0.0)
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:
GACGGAATGAGTGTCGGGAGA
R:
CAATCCCCATTGTGTGTCACCA
Band lengths:
238-601
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