HsaINT0064151 @ hg38
Intron Retention
Gene
ENSG00000135723 | FHOD1
Description
formin homology 2 domain containing 1 [Source:HGNC Symbol;Acc:HGNC:17905]
Coordinates
chr16:67231637-67232194:-
Coord C1 exon
chr16:67232039-67232194
Coord A exon
chr16:67231820-67232038
Coord C2 exon
chr16:67231637-67231819
Length
219 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
3' ss Seq
GGCTCTGGCTACATCCTCAGAAG
3' ss Score
3.87
Exon sequences
Seq C1 exon
AAAGCTGGAGAGGGCCGCCGGACAATGACCACAGTGCTGGACCCCAAGCGCAGCAACGCCATCAACATCGGCCTAACCACACTGCCACCTGTGCATGTCATTAAGGCTGCTCTGCTCAACTTTGATGAGTTTGCTGTCAGCAAGGATGGCATTGAG
Seq A exon
GTGAGGTCACCCAGCTATGGGTGTTGGGGGGAGGTCTGGCCTTCTCCTTTGGTAGGTGGGCATTTCCTGTCCCTCTGGTGGTGGGCATGGGCTTGGCATTTCTGCAGGGCAGTCCCCAGACACTGGGGCCTCCCCTAGATGACTGAGGGGTCAAGACCAATGCCTCAGGCCTCAGGCCTGCATTGAGGGGGCCATGTCAGGCTCTGGCTACATCCTCAG
Seq C2 exon
AAGCTACTGACCATGATGCCCACGGAGGAAGAGCGGCAGAAGATTGAGGAAGCCCAGCTGGCCAACCCTGACATACCCCTGGGCCCAGCCGAGAACTTCCTGATGACTCTTGCCTCCATTGGCGGCCTCGCTGCTCGTCTACAACTCTGGGCCTTCAAGCTGGACTATGACAGCATGGAGCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135723:ENST00000258201:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.280 A=NA C2=0.280
Domain overlap (PFAM):
C1:
PF0218118=FH2=FE(13.7=100)
A:
NA
C2:
PF0218118=FH2=PD(17.1=81.8)
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:
ACAATGACCACAGTGCTGGAC
R:
ATAGTCCAGCTTGAAGGCCCA
Band lengths:
303-522
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