HsaINT0062463 @ hg38
Intron Retention
Gene
ENSG00000138829 | FBN2
Description
fibrillin 2 [Source:HGNC Symbol;Acc:HGNC:3604]
Coordinates
chr5:128330573-128333034:-
Coord C1 exon
chr5:128332912-128333034
Coord A exon
chr5:128330696-128332911
Coord C2 exon
chr5:128330573-128330695
Length
2216 bp
Sequences
Splice sites
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
3' ss Seq
TTTATTGCTGTGTTCTGCAGATC
3' ss Score
10.43
Exon sequences
Seq C1 exon
ATGTGGATGAGTGTGAAATTGGTGCTCATAACTGCGACATGCATGCCTCATGTCTGAATATCCCAGGAAGCTTCAAGTGTAGCTGCAGAGAAGGCTGGATTGGAAACGGCATCAAGTGTATTG
Seq A exon
GTGAGTTTGCAAATGTAAATATCCTTTGCTAAGGCACAAATTTTTAAAGGCTCTTTTTTGCATGGTTGTAGAATCATGCTCTTCACTTTTATTAATTCCTTTATAAAAAGGTTATCTTAGTTGCAAGATAATTCCTGCCTAAGGGTGTCCTTTACCCTTAATATAAATTATCAAAATTTCAACAGTATGCCTTGGCACCTGTTTTTTAATGTGTTTTTGTTCAGTAAAAATTGATATGCAGCTGGTGATCCAAACACAGCTGTATGATGAAAAATGACTAGTATGTTCTTCCAATCTTTTCAAAGAAGTAATCAGTGAGATTTAAAATCCAGTGGAATAAATGGAGAGCAATGAAAAGGTTTTTTCAGATAACCTAATTTTTTAGTAAGTCATCAATACCACCATCTTATTAGAAAATAGAATTCTTCTTACAGGAAATTGTAAATGCTTTCTTGCATTCCAAGAGGTCTTATTTGAAGAAAAAAAATAGGCAAATTCTCCAAGTTTTATGGTTCTTGAGCCAGAGTCTAAGAAGTCTTTTATATCTGAGAGGGAAGGGACTAGAATATACCCTGAGTGTCATTCACAGTTTTGTGTAATATGCTTAGTGTTTCACATGCCTTACAATAAAGCATTTTTCCAACTAGTAAGAATTTCTAGGTCAATTTAAAACAGAAAAGAAAGCAAGCTAAACTCACTTCCCCCTGATAACTTACAAAAAATATATAGGCCCTCAGTAAGGATTAAAGAATAGCTTTAAGATCTCTTACCAAAACTATAAGTTAATTTGAATATATACTTTTTTATCCATTCAAATATTTCATACTTATCAAAAGTTTATGTACTGACTATAGAATTTGAAGTATCAGAGCTTCCAAATAACTGCTAAATAACATCCTGCAATGGCTTAGTGAAGTGCCAGCCTCTAGTCCAGCCATCTTTCCAGGGTTACTATCATAACTTTTCAACCATACCCTCATTCCCATTTTCGTAGCCCCATGTGCCTACTCTTTTTCTCTTTTTGGCCTCCCATTTTTATGCTTCTTGTCCATCTGTCATTTTGGCCAACTATTGCAAAACAGCCTGCCTCTGATACAAGACATTCAGCTGTGTCCAGCCTCCTGTGCTCCAGGATGTCACCCAAATTCATCCTCTCCTTTACATCTTCTTTCCCCTACTCTAGTCCCAACCAGAGAGAGTTTCTGTCTCTCTCACATGCCCTCGCTCTTCGTGTCTGCTGAATGCTAAAAGAATCCCCTCTGGTATGTTGGCTTGTTCCCTCTCTGGCCCTCCTGCAATCCATTCTCCACGTAGCAGCAGGAGGAAGCTTTTAAACCATGGATTCGATCTCTTCATAGTCTTCACTATAACCCATTGAATTCGGGATAAAATTCAGCTTCCCTCCCTTGGCTGCGGGTTTCCACTGTCTCTCTAGCTTCATTGTCCATCACCCTCTGTCTGGTGCATTCTGCTTTGCCACTCTAACCTCCTTTCATTTTTTCAGTCACACTGAGCTCTTTTCCTCCTTGGTGTCTTACCATGCACTCGTCCCTCTGCAAGGAATATCCTTCCCCACCTCTGTTCAGCAAGTTAATTGTTTCTCATCCTCAGGTCTGACCTTAACTAAAAACTACTTCCTCAATGGGGGCATCTTTGTTCCTGCAGCCCAAATCAGATGCCTTTTTTATTCTCTCATGGCACCTTGTAACTTTTCTTCATGGCACATATAGCAAGATTTAGTTTTTTTCTGTGTTTAACATCTGTCTTTTCTGCTCAACTAAGGGATTCCATGAGGTCAAGAATCATATCTCTGTTTCCTCATCTATTAAATAAACTTAAAAACTCTTTGTTAATTTTCCTGCTCTGAAATTCAGTATCACCTTCAGAATTGATTCTTCTACTGATAAGGAAACCACTAATAAAATTCACCCTCAGTAGAAGTCAGAATGAGATCTAACACTAATTTGCTTTAAGCTGTTAAAAAATTCACGTTGACTAGATATCTCACAAATTGCTTGAATTCATAATTTTGGCCCACATTTATAGCCTGGACATTGGACATTGGGTCTGAGAGCTTAGCGAATTAGAACTGTGATCCTGCAAACTAAAATGCCTGTCATTTATCCAGTTTATATGTAAATTAAGACAAACGATAATCTTTCCAGGTGCTTAAATGTTCCATTTTCATTTCTGAACTTTATTGCTGTGTTCTGCAG
Seq C2 exon
ATCTGGACGAATGTTCTAATGGAACCCACCAGTGTAGCATCAATGCTCAGTGTGTAAATACCCCGGGCTCATACCGCTGTGCCTGCTCCGAAGGTTTCACTGGTGATGGCTTTACCTGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000138829:ENST00000508053:38
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=95.2),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
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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