HsaINT0065126 @ hg38
Intron Retention
Gene
ENSG00000157827 | FMNL2
Description
formin like 2 [Source:HGNC Symbol;Acc:HGNC:18267]
Coordinates
chr2:152617091-152619158:+
Coord C1 exon
chr2:152617091-152617192
Coord A exon
chr2:152617193-152618845
Coord C2 exon
chr2:152618846-152619158
Length
1653 bp
Sequences
Splice sites
5' ss Seq
CGGGTAAGT
5' ss Score
10.75
3' ss Seq
GACCTTGGACTTTATTGCAGGAA
3' ss Score
7.23
Exon sequences
Seq C1 exon
TTATCTGAAAAACTGCAAGACACAGAGAATGAAGCCATGTCCAAGATTGTGGAACTGGAAAAGCAACTCATGCAGAGGAACAAGGAGCTGGATGTCGTTCGG
Seq A exon
GTAAGTGTAATGATGACAACTGCCCAGATGGGCACGGTAGGGAATGTACTCCAGCTTTCGTCCAGTGGAACGCAGAGTACCTTCATTTCAGAGGAATGCATTGATGCAGCATATTTATTGGAAACCTTTGAGAGGTGATGCTCAGTTGAAAACTACACATAGTCGGCGTTATGTATACACATGTGTGTGCAATCAGATACTGGGGGTTCAGTATTTCCTTATCACAGATTTTGGGAGCAACAGTGTTTTCCCATCTGGAGGAGGCTGAGTTAATTCTGTGGAACACCCATTTGGTTGGAAATAAAAACACAGCATGGATTTAATTCATGCCACTTATTTATTTTTATTAGGACTTGAGCTTCTTTGTATTTTTTTGCTTTGCTTCCACTCAAAACCAGATTTGGTGGTTGCTGTGTAAACAGTGAAATACAACACAGGCTAGGCTTAATGGCATTCACCAAAAAAAGGGAGGGGATGTGCAAAGCAAACCCAATCCATTTTATTATCAGCTAATCCCAGCTATTTTATTTGGCCTTAGTATTGTTTACCTTATGTGCCAGGTATTTATGGAGTGCCATCCCTGTGCTTGGAATTGTGCTGAACATAAGAACACCAAAATGCCTGGAGAGCTTTAAGGCAAATGGCTTGCCTTTACACCACTGCTAATGAAATTGCACCTTTTATGTGATGGTTATCGTGTCTGTGTGTGTCTGATATCCTGACATGTCCTACAGTTCAGTCCAGGAAATATATTTTCTGGCACGCCTTCGAGACAGAGTTGTAGCATATGGACTCAATTCAACTTCAGACTCTTAGATTATTAGTAATAGACAGGGTGTGAAGAATGTTTCCCTGCTTGCTGGAGGTTTGTGGTGAGAGATCGCTTGTACAAGGCCCAGCAAGGAAGTTCAGTTCCATAAAACCCTTTCACTAGAACCTCTATGGGCCCCCCCCTTATAAAAGGAACCAGGACAGTCTTTGAATTGAAAATTGTAACTTCTTTGTTTTCTGCTAAAAAGCTAGACAGAAATAAGTAATTAGTGAAGGGAAGCTTTGGCCTGTTTTGTTAACCGCATTACCGATGGGAAAATGTTACAACAATCGCTATCCTGAGCTTGGTCAAGGGGGCGTTGTGAGGGCCAGAGAAAGCCATTCAGAAACAGTCAGCCCCTGGTTACTCATGAGTAGATTATTCCATGCTTTGCAGATTTTTAATCCCAGTCTGATTTGTATCCAAGTCTGATTTAGGGCCCTTTTGTCTATTGTTAGCTGATATGTGTATCTAAGAGTTACAAATGAATGTTAAAATAAAAGGAAGGAAAACATGCACCACCAGAACACCCTCAGGAGATTCCAGAGTCAGCATTCCGGGTCATTTCTGCTCTGTTTCTTTCCACCTGCAGGGAAAATTGAGTTAGCTGCATTTATTAAATGGAAAGAACTTCATTACCAACAACAATAGCTAGAATATATTACATGCATTACTAGCATACAACTAATAATTAATGGGACTTTATAGGTTCTAGCTGAATTCCAAAGAATTCCCATTCATATGAGTATCTTTTTTTCTCTTTATCCTCAGTTTGCCAATCTGATGCTACTAAGTATGAATGTTATGTGAAGATAAACTCTTGACCTTGGACTTTATTGCAG
Seq C2 exon
GAAATCTACAAAGATGCAAATACTCAAGTTCACACATTAAGAAAAATGGTCAAAGAAAAAGAAGAAGCAATTCAAAGACAGTCTACCCTGGAAAAAAAGATTCATGAGCTAGAGAAACAAGGGACCATTAAAATTCAGAAGAAAGGGGATGGGGATATCGCCATACTGCCAGTTGTGGCTTCTGGCACATTGTCCATGGGGTCAGAAGTGGTAGCAGGTAACTCTGTGGGACCCACAATGGGGGCCGCTTCCTCAGGACCCTTGCCCCCTCCTCCACCACCACTGCCTCCCTCATCAGACACACCTGAAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000157827:ENST00000288670:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.235 A=NA C2=0.905
Domain overlap (PFAM):
C1:
PF0636711=Drf_FH3=FE(16.1=100)
A:
NA
C2:
PF0636711=Drf_FH3=PD(21.0=41.0)
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:
CTCATGCAGAGGAACAAGGAGC
R:
AGGTGTGTCTGATGAGGGAGG
Band lengths:
342-1995
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