HsaINT0065118 @ hg38
Intron Retention
Gene
ENSG00000184922 | FMNL1
Description
formin like 1 [Source:HGNC Symbol;Acc:HGNC:1212]
Coordinates
chr17:45234072-45236244:+
Coord C1 exon
chr17:45234072-45234200
Coord A exon
chr17:45234201-45236135
Coord C2 exon
chr17:45236136-45236244
Length
1935 bp
Sequences
Splice sites
5' ss Seq
CAAGTATGT
5' ss Score
7.44
3' ss Seq
CTCCTCCACACCCCGCCCAGGCT
3' ss Score
4.25
Exon sequences
Seq C1 exon
GTATGACATGGAGAGCACAGACAACGGGGCTTCCAACTCAGAGAAAAACAAGCCCCTGGAGCAGTCTGTGGAAGACCTCAGCAAGGGTCCACCCTCCTCCGTGCCCAAAAGCCGCCACCTGACCATCAA
Seq A exon
GTATGTGGGCCACAAAGTGGGGTGGTGGGAGAACAGAGAATTCAGCCCCCACACTGCTGCATCTAGCCAGCCCACCCCGGGCCCTTGGGGTTGGCGAGAGGGGTAGCCATGCATTAGGGGTCCGAGTAAGGGACTCATACAGAGTTTGGGACACCAGTATGTTAAGAAGCCATCAGGGGTGGGGCTGGGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGTGGGCAGATCATTTGAGGACATGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCTAGCTACTCAGGAAGCTGAGGTGGGAGAATCGCTGGAGCCCAGGGGATGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTGCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAGCCATCGGGGTGGGCACCTAGAAGTTGGAGTCTGGATGGGTCTGGGATAAGAAGGGAGTTTCTGGGTTGGTGGGACCCCTCTTGTATGCATCTAATCCCCTGTTTTCTCCCATGCGGCCTCCAGGTGTCCCCCTTCTCCCCGGTACGTAGCCATCTAGGGGCAGGTGCATGCCTGGCTGACTCCCTCCCAGGGTGGTGGTGGGTTAGGATGAGGTATTCAACTGATGTCCCTGGGTTCAGTGCTGTGGCTGGGTTCCTCCATCCTAACACGGGCATCTTGCTGGGAGGCAGGAAGCAGGCAGTAGATGGACCCTAGAGCATCTTGTGAATCCCTAGCTTCCTGCTTTGGGTCTAGAGGATTGATTGCATATTAAGCCTCAAACTTTCACAATATGTTATTTGTCCATTCATGCAATTATGCATTCAGCAAACATTTTTTTAACACTTAGTATGTATTAGGTATATGGCAGGTGCCCAGGAGACAGGTCACCCTGCCCTCAGGGGCCCACAGTCTAAGTGGGGGACAATTTAGTGTGACAGGCTGTCATGGAAGTGTGCCTGGGAGCTCTGAGAAGGGAGGTGGCCACCACTTGGGACATCAGGAAGGCTTCCCAGAAAAGGTGACGCTGGAACTGTGTCTTACAGACAGATACAGGCTTTACAGGCAGCCATGGGAACAGGGAAGAGCATTCCAGGCAGAAGGAACAGCATGAACAAAAACTCTGACATATTAGCACAATGACAAGAAAGGGTGATGTGGCAGGAGGGGGTGAAGGCGGGGCCTCCTGGTATTACTGGGAATGTGATAGAATCATCAGAGAGACTGACATGTGGAAGTCCCGGTCGGCAGTTCTGCAACAATGAAAACATCACACATTTGTTGGCGAAGAATAAGGGAGTACAGTCATATAGCACTTACTATGTGCCAGGCACTGTTCTAAGCCTATTCCATAGTCCCAACAACCCTGACAGGAAGCTACTATTATTAGCATTCCTATTCTAGAAGCGAGGAAAGTGAGGGATAGGGAGATTAAGTGACTTATCCAGTAAATGGTGAGCTGGGATGCGCCTGAACCCTGGCAGTGTGAATTCAGATCTGCGTCTTACATTGGAAGATGAGCCCAAGTGGCCATGAGCGCCACCTTGTGGTGATCCTTCCCATGTCTCTTCCTTCTATAGACCCTCACCCTACCAAGTCCCTGGGAAGTGTCTTTGCTTCTGTGTCCCCCCTCCTCCAAGCATGCCAGACCCCAGGTCTAAGGACTGAGGAAGCCTGCCTGCCCTCAGCCAGCCTCTTTGGTTGGGTAGATGGGATGTGGTGCCGTCAGGTTCCAGATGTGCCTCCTCTTACCCCAGAGGCTGAGTGGTGGGGAAACAGGAAGCTGGGGCTCACTCTGACTCCTGCTGCCTCCTCCACACCCCGCCCAG
Seq C2 exon
GCTGACCCCAGCCCACAGCAGGAAGGCCCTGCGGAATTCCCGCATCGTCAGCCAGAAGGACGACGTCCACGTCTGTATTATGTGCCTACGCGCCATCATGAACTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000184922:ENST00000331495:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.807 A=NA C2=0.054
Domain overlap (PFAM):
C1:
PF063718=Drf_GBD=PD(7.5=25.0),PF063718=Drf_GBD=PU(3.8=6.8)
A:
NA
C2:
PF063718=Drf_GBD=FE(45.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTATGACATGGAGAGCACAGACA
R:
CTGGTAGTTCATGATGGCGCG
Band lengths:
238-2173
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