HsaINT0065109 @ hg38
Intron Retention
Gene
ENSG00000184922 | FMNL1
Description
formin like 1 [Source:HGNC Symbol;Acc:HGNC:1212]
Coordinates
chr17:45244979-45245416:+
Coord C1 exon
chr17:45244979-45245108
Coord A exon
chr17:45245109-45245252
Coord C2 exon
chr17:45245253-45245416
Length
144 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
3' ss Seq
CTGCCCCATCCCTGGCCCAGTGT
3' ss Score
5.39
Exon sequences
Seq C1 exon
CTGTTGGAGATGAAGTCGACTGATCGCAAGCAGACGCTGCTGCACTACCTGGTGAAGGTCATTGCTGAGAAGTACCCGCAACTCACAGGCTTCCACAGCGACCTGCACTTCCTGGACAAGGCGGGCTCAG
Seq A exon
GTAGGAGACACACAGATCCTTGGGTGTGGGGAGGGGCCGTGGGCTGGGGTAGGTTGGGAGAAAGCTAGGGGGCCACAGTATATAATTGGTGGGAGGGCTGCCTCTCCGATTCACTGACCTGATACTGCCCCATCCCTGGCCCAG
Seq C2 exon
TGTCCCTGGACAGTGTCCTGGCGGACGTGCGCTCCCTGCAGCGAGGCCTAGAGTTGACACAGAGAGAGTTTGTGCGGCAGGATGACTGCATGGTGCTCAAGGAGTTCCTGAGGGCCAACTCGCCCACCATGGACAAGCTGCTGGCAGACAGCAAGACGGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000184922:ENST00000331495:21
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=0.077
Domain overlap (PFAM):
C1:
PF0218118=FH2=FE(12.8=100)
A:
NA
C2:
PF0218118=FH2=FE(16.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCTGCACTACCTGGTGAAG
R:
CTGAGCCGTCTTGCTGTCTG
Band lengths:
258-402
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