HsaINT0062456 @ hg38
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128337997-128339061:-
Coord C1 exon
chr5:128338933-128339061
Coord A exon
chr5:128338123-128338932
Coord C2 exon
chr5:128337997-128338122
Length
810 bp
Sequences
Splice sites
5' ss Seq
TGGGTAAGC
5' ss Score
8.84
3' ss Seq
CTCACGTTTTTACCTTTCAGACA
3' ss Score
9.36
Exon sequences
Seq C1 exon
ACATCGACGAGTGCAGGATTTCTCCTGACCTCTGTGGCAGTGGAATCTGCGTCAATACACCGGGCAGCTTTGAGTGCGAGTGCTTCGAAGGCTATGAAAGTGGCTTCATGATGATGAAGAACTGCATGG
Seq A exon
GTAAGCACCGTGAGCTCTTCCTCGCCAGCTTGAAACCATACTAGCACAGACTCATTCGTGCGCATGACCTTTGCTTATCTCTGGGCTGTGAACGGCATGTGTGGCCAGCATCTGTGGTGAGAGAGAGAAGAGATTTAAATGTCAGACAGGAAATGCGCTCCTGGATAGCTCTCGGGGAGCCCCAACCTCTTGGCGCCTTCATGGCAATGAGATACTCAGATTGGATCCTGTTTATTCATAGAATCTAAAATCACACAGACTGTTTATTTAGGTGGGACTACTTTAAAATGCATGGCATCGTGTGGTGGCCCCAAGATTTGTATTCAGTCATGCCAATCCCATGTTATTGCTCTTATTTGTGTACTATTACAAACTCTTTTGGTATTCCCAACCTTTTAGCCCACTGTTTAATTTTCAGTATGATATAAGACCTACCTCATAGGATATAGTAGGTTATAAGTCTAAGATTCTCCTTCACCCTGATTAGCGTTACAGACACCAGGATAACTGACAACAATATATCATGAGTCCGTGGTGATATAAAGCAAATATTATGTATTTCTACCCCTTGTGAGCCTGCTGATTTCATGCAATTAAATTTCTTGAAAGCTTACTACCTTTAAGAGTAGAAATTTTAGTTTTTCTGTTGGTCGTAGGAAAAGTGAGGAAAGCGTTATCCCATCTCCTATGAAGCATCTCTCTTCCACTAACTCACACTCTCACATCAGATAATATTCTTTCTCCCACGCTGTATGTGTGAATATTTTTCCCTCAGAGTTCTTTAATGGATCTCACGTTTTTACCTTTCAG
Seq C2 exon
ACATTGACGAATGTGAACGTAACCCTCTCCTTTGTAGGGGTGGCACCTGTGTGAACACTGAGGGCAGCTTTCAGTGTGACTGCCCACTGGGACACGAGCTGTCACCATCCCGTGAGGACTGTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829:ENST00000508053:32
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=95.5),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:
ACATCGACGAGTGCAGGATTT
R:
CCACACAGTCCTCACGGGA
Band lengths:
255-1065
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