HsaINT0062459 @ hg38
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128335170-128335577:-
Coord C1 exon
chr5:128335455-128335577
Coord A exon
chr5:128335296-128335454
Coord C2 exon
chr5:128335170-128335295
Length
159 bp
Sequences
Splice sites
5' ss Seq
CAGGTATAG
5' ss Score
8.73
3' ss Seq
TGCTAATTTTGTATCATCAGACA
3' ss Score
5.17
Exon sequences
Seq C1 exon
ATATTGATGAATGTATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTCAGAGGGAAGCTACGAATGCAGCTGCAGTGAGGGTTATGCCCTGATGCCAGATGGGAGATCGTGTGCAG
Seq A exon
GTATAGAAAGGAAAACACACAGGTTTTGTACATCTAACTAATTTTTTCTTGAAAATATGGCTCCAGATATTACCAAGTGGAACCAGATAGAAAACAAAAACATTTGAGATTGATGAACGACATTTTTATTTTCATTTGATGCTAATTTTGTATCATCAG
Seq C2 exon
ACATTGATGAATGTGAAAACAATCCTGATATCTGTGATGGCGGCCAGTGTACCAACATTCCTGGAGAGTATCGCTGCCTCTGCTATGATGGCTTCATGGCTTCCATGGACATGAAAACATGCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829:ENST00000508053:35
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:
TGAATGTATGATAATGAACGGAGGCT
R:
TGTTTTCATGTCCATGGAAGCCA
Band lengths:
235-394
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