HsaINT0062494 @ hg38
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128273840-128274683:-
Coord C1 exon
chr5:128274567-128274683
Coord A exon
chr5:128273969-128274566
Coord C2 exon
chr5:128273840-128273968
Length
598 bp
Sequences
Splice sites
5' ss Seq
TCGGTAAGA
5' ss Score
10.53
3' ss Seq
GCTTCTTGATGCTTTGCCAGACA
3' ss Score
3.08
Exon sequences
Seq C1 exon
ACCTTGATGAATGTCAAACAAAGCAGCATAACTGCCAGTTCCTCTGTGTCAACACCCTGGGGGGGTTTACCTGTAAATGTCCACCTGGTTTCACACAGCATCACACTGCTTGTATCG
Seq A exon
GTAAGACAAAGTTACAAATGGGAAATTTTACAAACTTCTAGTAGATGCATAAAAATTATATTTAAAATTATAAACAGAAGAATGTCCTGGTATTTATGTTCAGTAACCAATACCCCATAATTTGTGGTCTAAAGAAGTTGCTAATAAGATAGATATTTTCAAGAACAATATCCAAAGGGAAAAAAAAGGCCTTTTTAGTCCAAGCACCTGCACAGTAGCCATATTTCAAGCAGTGCCTTTATATCACATTCTTAATGCAACCATGGTGTTCAGACAAAATATGATTAAAGGCTCACTGTAATTTAGAACATGTTAACAAACATATTGAGCTTTTATTTTAGAAGACACATGTTAAGGAACTTTAGTCAGTGTGCCTTCAATCACTCCAAAATATGCTCAAATCTCAAACCTCTTAAAATACACTTTTTCTTACCACTTTTGTCTTTAATATGACAGTGAATTTTGGTATAAATTTTCCCAAAATGCCATTTTCACATCATGAAACTTAGGTTTTCATACATTGCTTTTTACTTCCCATGAAACGTAAGACATGTTATGATTGGAAAGTTTGACGCTCTGCTTCTTGATGCTTTGCCAG
Seq C2 exon
ACAACAACGAATGTGGGTCTCAACCTTCGCTTTGTGGAGCAAAGGGAATCTGTCAAAACACTCCAGGCAGTTTCAGCTGTGAATGCCAAAGAGGGTTCTCTCTTGATGCCACCGGACTGAACTGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829:ENST00000508053:66
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=95.0),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.5),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:
ACCTTGATGAATGTCAAACAAAGCA
R:
CTTCACAGTTCAGTCCGGTGG
Band lengths:
246-844
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