HsaINT0062559 @ hg38
Intron Retention
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8072048-8073297:-
Coord C1 exon
chr19:8073063-8073297
Coord A exon
chr19:8072199-8073062
Coord C2 exon
chr19:8072048-8072198
Length
864 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGA
5' ss Score
6.65
3' ss Seq
CCCTGCCCATCCTGGCCCAGGCA
3' ss Score
6.88
Exon sequences
Seq C1 exon
ATGAGAATGAGTGTGCCCTGTCGCCCCCCACCTGCGGGAGCGCCTCCTGTCGCAACACTCTTGGTGGCTTCCGCTGCGTCTGCCCCTCTGGCTTTGACTTTGATCAGGCCCTCGGGGGCTGCCAGGAGGTGGATGAGTGCGCCGGACGGCGTGGCCCCTGTAGCTACAGCTGTGCCAACACGCCTGGTGGCTTCCTGTGCGGCTGTCCTCAAGGCTACTTCCGGGCTGGGCAAGG
Seq A exon
GTGAGAGGCTGGAGTGGGGCAAGCAGACTCCATGCCCCGCAAGCGTCCATGCACGCACGCACACACACACACACACACACACACACACACACACACGGGGCTTTGTGCATGCCAAGAATTTACCAGAAGAGCTCCTTCAGCCTGTGCATGCAGGCATTTGCCCACATATGCACAGAGTCCTGGACACGCAGAGGTACAGTGGCACCTGTATCTATTCACACACATCCTCACAGCACTCACATGTAGTTGTCCACATGGCACACACCCGTACCAGCATGCGTGGGCACCCTTGTGCATTTACAGATCCCAGCATGCACACGTGTGTGTGTGTGTGTGTGTGTGCACGCGCGCATGTCCCAGTGTGCACTCAGGCTCATGCATGCCCACATCCCTGGGGGCACAGTGCCATTGCTACATCCTGGTTTGCACAGGTGAGGAAGCACGCGTCAGCCATCTGTGAGTGCTCACACTATACACACATCCCCAGGCACACTCAGGGAGATTCACACATTCCTACGAGCACACATGTGCCTGCATGAGTTATTCCCCATGTGAACACACAGGTTGGCACACGCACATGCCCCTGGGTATGCTCATGTCCATTCATCCATCCCAGCCTGTGCACGTCCTCTCACTCCTGTGTTCACACCTATGCCCAAATGAACCAAGGGACACACATGCACACCCTTATGTGGTGCACACACACTCGTGCACACGGAGCCACACCAGCACATGCTCAGAGGCATTTGTGTGCGTGGGCATTTGCAGCATGACTCAGAACGGAGTATGGGGTGGAGCGGCGTGGCTGGGGAGGTCCCATCAGCCCGCCTCTGAAACCCCTCCACCCTGCCCATCCTGGCCCAG
Seq C2 exon
GCACTGTGTCTCCGGCCTGGGCTTCAGCCCCGGACCCCAGGACACCCCGGACAAAGAGGAGCTGCTCTCGTCTGAAGCCTGCTACGAATGCAAGATCAATGGCCTCTCCCCTCGGGACCGGCCACGACGCAGTGCCCACAGGGACCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449:ENST00000600128:62
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=0.333
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=51.9),PF0764510=EGF_CA=PU(92.3=45.6)
A:
NA
C2:
PF0764510=EGF_CA=PD(5.1=3.9)
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:
GAGAATGAGTGTGCCCTGTCG
R:
GAGGGGAGAGGCCATTGATCT
Band lengths:
346-1210
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