HsaINT0062519 @ hg38
Intron Retention
Gene
ENSG00000142449 | FBN3
Description
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Coordinates
chr19:8117464-8119022:-
Coord C1 exon
chr19:8118897-8119022
Coord A exon
chr19:8117590-8118896
Coord C2 exon
chr19:8117464-8117589
Length
1307 bp
Sequences
Splice sites
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
3' ss Seq
TCACCTGCACTCCCCCACAGACA
3' ss Score
9.49
Exon sequences
Seq C1 exon
ACGTGGACGAGTGTGCAAGGGACCCGCTGCTCTGCCGGGGAGGCACTTGCACCAACACGGATGGGAGCTACAAGTGCCAGTGTCCCCCTGGGCATGAGCTGACGGCCAAGGGCACTGCCTGTGAGG
Seq A exon
GTAAGTGTGCATCTGGGTGTGCAAGTGTGAGTGTTAGCCCATGTGTGTGAAAGTGAGTGGATGTCTGGTGAATGTGGGCTGGATGAGTGAGAGGGTGGGCATGTGTATCTGTCTTTCTGAGGCCATACCTATGTGTGAGCGTGCAAGTGTGTGTGTGTATCTGTGTGTGTAAGTGGGTTTATATGCAAGATGGCGGGAGTGTGTTTGTGTGTCTAGATGAACACGCACATGTGTGAGTGTCTGTACAAGGGCAAGCGTTTGTGCATTTGTGTGACTGTGTGTCTGTACAAGGGGGAGTGTTTGTATGTGAGGAGTGAGTGTGTGTGTGCGTCTGTGTGAACACACAAGAGGGTTTGAGTGTGTATTTGGCTATGAATGTCTCTACCAAGGGCAAGTGTGTTTGCATGTGCGTAGGTGTGTTTCATTTTGTTTTGTTTGAGACAGGGTCCCAGTCTGTTGTCCAGGCTGGGGTGCAGTGGCACAATCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAGGTGATCCTCCCATCTCAGCCTCCCAAGTAGGTGGGACTACAGGCATGCGCCACTATGCCTGGCTAATTTCTGAGTGGGTGTGTTTGTACGTAAGTCTGTGTGTGTGTGTGTAAGAGAATGTGATGTGTAGTTGGATGCAAATGCATGTTTATAGAGGTGTGTTTGTGTGTGAGTGGGTGTGAGAATGTGTTTGAGTGGGTCTGTGTGGGTGTACCTCTGGGTGTGGGTGTCTGGGTGTGGACATGTGTTTGCACAAGGACAGGTATGTTTGAGGGTGTGTTTATGTGTGTGTCTGTGTGAGTGTGCACATGGGTGTGTGTGTATGTGTGAGTGTGCATTGGGTGTTTGTGTGTCTGTGTGTGCACATGGGTGTGAGTGTGCCCCTGGGTGTGGATGTGTATTTACACATGGGTGAGTGTATTTGTGTGCAAGTGGATATAAGGTGTGTTGTGAATTTAGGAGTGTGCACTTGAGTGTGAGTGTGTATCTGAGTGTGCCTGTGTGTGTCTGTCAAGGGTGAGTGTGTTCACACGTGAGTGGGTGCCAGGGTGTGTTTGTGAGTCTGTGTGAGCGGGCACGTGGGGTGTGTATATGGGTGTCTGTGCTTATAGGAGAGTGAGTGTATTTGCATGTGAGTGAATGCAAGTGTACGGATAGGCACATGCGGGGCTGTGCCAATGCTGGCAGTGTGAGCTCCTTAGCATGCATGTGTGCCCCCAGTGTGTCTCATGGTCACACAGACGGCAGATGGGGCACAGGCCCGTCTTTCACCTGCACTCCCCCACAG
Seq C2 exon
ACATCGATGAGTGCTCCCTGAGTGATGGCCTGTGTCCCCATGGCCAGTGTGTCAATGTCATCGGTGCCTTCCAGTGCTCCTGCCATGCCGGCTTCCAGAGCACACCTGACCGCCAGGGCTGCGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449:ENST00000600128:26
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:
PF0764510=EGF_CA=WD(100=95.3),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.3)
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:
TGGACGAGTGTGCAAGGGA
R:
TGGCGGTCAGGTGTGCTC
Band lengths:
238-1545
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