HsaINT0062427 @ hg38
Intron Retention
Gene
ENSG00000166147 | FBN1
Description
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
Coordinates
chr15:48425369-48425864:-
Coord C1 exon
chr15:48425739-48425864
Coord A exon
chr15:48425492-48425738
Coord C2 exon
chr15:48425369-48425491
Length
247 bp
Sequences
Splice sites
5' ss Seq
TAGGTAAGT
5' ss Score
9.66
3' ss Seq
CTGTATTTCTTTGATCATAGATC
3' ss Score
6.93
Exon sequences
Seq C1 exon
ATATCGATGAATGCAAGGTTATTCACGATGTTTGCCGAAATGGGGAATGTGTCAATGACAGAGGATCATATCATTGCATTTGTAAAACTGGGTACACTCCAGATATAACTGGGACTTCCTGTGTAG
Seq A exon
GTAAGTGTCTATTTCTGATGGCTTATCCTCAAGTGGAAATTTTAGATTATGGAAAAAAAAAAACCCAAAGCTAAAAATCTAAAAAGTCTGTGCAGTTTCATAGGAAAGCACAGGACAATCATCAAAGTCTACACAGAGTTTCCTTTTTCTTTCCCCGAAACTAAAATTCTTCGTTAGACCCTGTGGAAATTGAGCGTGTACACATCATTTTTAGATGCACAGTCACGCTGTATTTCTTTGATCATAG
Seq C2 exon
ATCTGAACGAGTGCAACCAGGCTCCCAAACCCTGCAATTTTATCTGCAAAAACACAGAAGGGAGTTACCAGTGTTCATGCCCGAAAGGCTACATTCTGCAAGAGGATGGAAGGAGCTGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166147:ENST00000316623:59
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=95.2),PF0764510=EGF_CA=PU(0.1=0.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGATGAATGCAAGGTTATTCACG
R:
TTGCAGCTCCTTCCATCCTCT
Band lengths:
244-491
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