HsaINT0065105 @ hg38
Intron Retention
Gene
ENSG00000184922 | FMNL1
Description
formin like 1 [Source:HGNC Symbol;Acc:HGNC:1212]
Coordinates
chr17:45243791-45244244:+
Coord C1 exon
chr17:45243791-45244025
Coord A exon
chr17:45244026-45244175
Coord C2 exon
chr17:45244176-45244244
Length
150 bp
Sequences
Splice sites
5' ss Seq
CCGGTGTGG
5' ss Score
4.97
3' ss Seq
CTCCCCCATCCCACCCCCAGCAA
3' ss Score
7.67
Exon sequences
Seq C1 exon
GTACGACCTGCAGGCTCTGGGCCTGGACTTCCTGGAGCTGCTGATGCGCTTCCTGCCCACAGAGTATGAGCGCAGCCTCATCACCCGCTTTGAGCGGGAGCAGCGGCCAATGGAGGAGCTGTCAGAGGAGGACCGCTTCATGCTATGCTTCAGCCGCATCCCGCGCCTGCCGGAGCGCATGACCACACTCACCTTCCTGGGCAACTTCCCGGACACAGCCCAGCTGCTCATGCCG
Seq A exon
GTGTGGGCGGAGCGGGCAGGGCGGTGTGACTTGGGAGGGGATGGGCAGGAGGCAACTCCCAGCCTGGGCTGCGGCAGGGAACCTGGGAGTACTTGAGCCTCCAGATGGAGGAGGCTCCAACTTATCTTACCTCCCCCATCCCACCCCCAG
Seq C2 exon
CAACTGAATGCCATCATTGCAGCCTCAATGTCCATCAAGTCCTCTGACAAACTCCGCCAGATCCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000184922:ENST00000331495:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.051 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0218118=FH2=FE(23.3=100)
A:
NA
C2:
PF0218118=FH2=FE(6.6=100)
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:
GACTTCCTGGAGCTGCTGATG
R:
TGATGGACATTGAGGCTGCAA
Band lengths:
247-397
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development