HsaINT0062521 @ hg38
Intron Retention
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8116674-8117291:-
Coord C1 exon
chr19:8117169-8117291
Coord A exon
chr19:8116800-8117168
Coord C2 exon
chr19:8116674-8116799
Length
369 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGT
5' ss Score
10.28
3' ss Seq
CCCCAACCCTGCTCCCCCAGACG
3' ss Score
6.8
Exon sequences
Seq C1 exon
ACATCAACGAATGCCGGGTCCAGAATGGTGGGTGTGACGTGCACTGTATTAACACTGAGGGCAGCTACCGGTGCAGCTGTGGGCAGGGCTACTCGCTGATGCCCGACGGAAGGGCATGTGCAG
Seq A exon
GTAGGTGGGCACAACTTCTTCCCACTGCCTGGTGTGGAGGGTGAGGAGGAGGTGTTGGCTGGGTCCTGCACTGGCCCAGAGCCCAGCACAGCATAGTGAAGCCAGCCAGACCCGAGGCACCCCCTGCCTGGCCTGTGGTCCTGGCCCCAGGCAGGCTGCTCACCCTGTGGGAGAGCCCCTGGGATTTTTGCAGAGGAGGGTGAATAAGGTGGAAAAGAACCTCAGAACTGCTTGAGCGCCCCCAGACTACTCGAGTGACCATCGCTATCCTCACCTGGCTACAGGTCGTCCTGGGGCCTGGGGAGCAGATGTGTACTGGGTGGTCTATCAGGGCAAAGCTAAGCACAGTCCCCAACCCTGCTCCCCCAG
Seq C2 exon
ACGTGGACGAGTGTGAAGAGAACCCCCGCGTTTGTGACCAAGGCCACTGCACCAACATGCCAGGGGGTCACCGCTGCCTGTGCTATGATGGCTTCATGGCCACGCCAGACATGAGGACATGTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449:ENST00000600128:28
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:
PF146701=FXa_inhibition=WD(100=85.7),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.3),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:
ACATCAACGAATGCCGGGTC
R:
CATGTCCTCATGTCTGGCGTG
Band lengths:
244-613
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