HsaINT0062373 @ hg38
Intron Retention
Gene
ENSG00000166147 | FBN1
Description
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
Coordinates
chr15:48644606-48645849:-
Coord C1 exon
chr15:48645575-48645849
Coord A exon
chr15:48644951-48645574
Coord C2 exon
chr15:48644606-48644950
Length
624 bp
Sequences
Splice sites
5' ss Seq
CCAGTGGGT
5' ss Score
3.07
3' ss Seq
GATTTGTCTCTGTGTTGCAGCTG
3' ss Score
9.81
Exon sequences
Seq C1 exon
GTGGTGATGAGGGCGACGAAGGAGGGGGTGTCATTTTCTTTTTCTTTCTTTTTTTAAAAAAAGTATTTCTCTCGCGAGAAACCGCTGCGCGGACGATACTTGAAGAGGTGGGGAAAGGAGGGGGCTGCGGGAGCCGCGGCAGAGACTGTGGGTGCCACAAGCGGACAGGAGCCACAGCTGGGACAGCTGCGAGCGGAGCCGAGCAGTGGCTGTAGCGGCCACGACTGGGAGCAGCCGCCGCCGCCTCCTCGGGAGTCGGAGCCGCCGCTTCTCCA
Seq A exon
GTGGGTGCAGCCGGGGTCCCGACGGGGGTCGGGCGGCCACCGGGGCTGGAGCTGCGGCCACGGAGGCTTTTGCGTTTGCGCCGCGCCGAGGGCAGGGACAGGGACTGGGGTGAGGGGCTGTCCCGGAACGTCCACAGCTGGCGCTGGCCCTCCCCTGCCTGACAGCTTCCTGGCCCGGGGCTCTTGGTGCCGGGCTCCGCGTCAGATGTTCGGGGGGCGGTGGCATCGCCCGGAGTCGGCGGGGACGGCGCGGCTGGCTTCCAGCCTGGCGGAGAGGGCAGGCTGAGGAGTGGGGCGTTCAGAGCGCGCATCGCGCGCAATTCGTGCCGCTAAAAAAAATAAACCCAGAGAGCTCGCCCGGGGCTTAGGACCGCTGGGGATATGGGTACTTTGCGCCGCGCTCTTCTGGCGGGGCCCGGGAGGCCGAGGGATCGGCCGGGGCTGCTGCCGCCGGGGGCCTGGGCTTTCCAGCCAGCTGTGGACCAAACGGTCTTCCCTTACCCAAATTAACTGCGCCACGCGCAGGCGGCGCACGGGTTGGGCTTGGGAATGGGGACCGCGAGGCTTCAGCATCCCGATGCCCTGAAAGTCTCCCCGCCTCGGGGATTTGTCTCTGTGTTGCAG
Seq C2 exon
CTGGCAGGGGCCGCCTGAAGTGGGAGCAGCGCCTGGAGAAGGCGGGAGGAGCCCGGCCCGGGGGACGGGCGGCGGGATAGCGGGACCCCGGCGGCGCGGTGCGCTTCAGGGCGCAGCGGCGGCCGCAGACCGAGCCCCGGGCGCGGCAAGAGGCGGCGGGAGCCGGTGGCGGCTCGGCATCATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAATTTGGAGGCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166147:ENST00000316623:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.327
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGAGACTGTGGGTGCCA
R:
TAAATCCCAGGGCGATCTCCA
Band lengths:
358-982
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