HsaINT0062431 @ hg38
Intron Retention
Gene
ENSG00000166147 | FBN1
Description
fibrillin 1 [Source:HGNC Symbol;Acc:HGNC:3603]
Coordinates
chr15:48420687-48421686:-
Coord C1 exon
chr15:48421558-48421686
Coord A exon
chr15:48420807-48421557
Coord C2 exon
chr15:48420687-48420806
Length
751 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
3' ss Seq
TGGCTCTGCTTCTTTTTCAGACG
3' ss Score
9.33
Exon sequences
Seq C1 exon
ATAACAATGAATGCACCTCTGACATCAATCTGTGCGGGTCTAAGGGCATTTGCCAGAACACTCCTGGAAGCTTCACCTGTGAATGCCAGCGGGGATTCTCACTTGATCAGACCGGCTCCAGCTGTGAAG
Seq A exon
GTGGGTGGAGACTTCAGCTGCGATCCAGCTGGTGAATCCTTGTGGAGGTGGCCTGTGTGGCTATTGGCACCTTCATCATCAGCCTCTATGAGATAGCAGATCTGAGCCCAGGGGGGCACTCAGCTAAAATAGTGTGCACAGGTCCTGTATCTTAGAGAGTCGTGTTTTGTTTCATGCTTGATTGTGTCTAACACACATGCCTTTCCTAAGTATATCAAGACTTTTTCTGCTAAGTTTTTAATTTAACCTAATAGGGAATAACTCAGTCAAGAAAAATATACTTGATTTTGATTCATTAATTTTCTGGTCACTGGGTCCAGAGCCATAAAGGGATTTCCCCCATGTGGACTAAACATATGAGGAATAGCTCTTCTGATGACATTTAATTAGAAGTTTAAATGATATTTTTAGAAGTTGACTGTGGCTTTGACACGTTTTGGTTTCTAATTGTGGCACCAAAAATAAAAAAAAAAAAGAGCAAACACAAATAACTTATAACTTACAGAGCTGTCCCAGAGAGTGCTTTGGGCTTTGCACTAATTTCCTGACAATTTTTATTTGTAGACTTTGCCAGGGCTCTCTGAATGATTTTCTCCTTGGACTTAGCAGCAGTTCCAGAAGAGAGATTCTTGAAGTTTTTGGTGGTAGAATAATGTGTAGGATGTGTAGGGGCCAGATTTCTTATTAGAATCCATCTGGCTTCAGAGAGAGATGTTGAGTTGGCATCATGGTGGCTCTGCTTCTTTTTCAG
Seq C2 exon
ACGTGGACGAGTGTGAGGGTAACCACCGCTGCCAGCATGGCTGCCAGAACATCATTGGGGGCTACAGGTGCAGCTGCCCCCAGGGCTACCTCCAGCACTACCAGTGGAACCAGTGTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166147:ENST00000316623:62
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=95.1),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:
ACAATGAATGCACCTCTGACA
R:
CAACACACTGGTTCCACTGGT
Band lengths:
246-997
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