Special

HsaINT0064154 @ hg38

Intron Retention

Gene
Description
formin homology 2 domain containing 1 [Source:HGNC Symbol;Acc:HGNC:17905]
Coordinates
chr16:67230601-67231349:-
Coord C1 exon
chr16:67231188-67231349
Coord A exon
chr16:67230792-67231187
Coord C2 exon
chr16:67230601-67230791
Length
396 bp
Sequences
Splice sites
5' ss Seq
AAGGTTAGC
5' ss Score
5.61
3' ss Seq
GCACCCCCTTGCTTTCTCAGGTG
3' ss Score
9.77
Exon sequences
Seq C1 exon
AGCAGCGGCTTTGAGCTGAGCTACCTGGAGAAGGTGTCAGAGGTGAAGGACACGGTGCGTCGACAGTCACTGCTACACCATCTCTGCTCCCTAGTGCTCCAGACCCGGCCTGAGTCCTCTGACCTCTATTCAGAAATCCCTGCCCTGACCCGCTGTGCCAAG
Seq A exon
GTTAGCACCTGCCAGAATCAACCAAGGCCGGACAAGGCATGAGGAGCGCTGCTTCCTGGGCCTGGCTCCTCCCCCTTCTCCCCATTTGGGCTGCTGTGCCAGGGCTTGCTCCAGCCACCTGGGTGTGAGCTATGCCCTCTGCCAGAAATGCTCTTTCCTCTATTGGCCTGGCCACACCTACTCAGTCTTTGGGTCTGTTTAACTGCCACTTCCCCCAGTAAACCTTCTGCTCCCCATTCACATCAGATGGACTTGTGTCTCTTGCACTAGTCTATGAGATTTGGATGTCTGTGTCCTTAGGGCCCAAGCTGGCCACTCTGGCCCAGAAGCAGCCTCGGGCCATGTCTTGTCTACAGGGTGTGGGGGGACAGTATGTGCACCCCCTTGCTTTCTCAG
Seq C2 exon
GTGGACTTTGAACAGCTGACTGAGAACCTGGGGCAGCTGGAGCGCCGGAGCCGGGCAGCCGAGGAGAGCCTGCGGAGCTTGGCCAAGCATGAGCTGGCCCCAGCCCTGCGTGCCCGCCTCACCCACTTCCTGGACCAGTGTGCCCGCCGTGTTGCCATGCTAAGGATAGTGCACCGCCGTGTCTGCAATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135723:ENST00000258201:17
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=0.000
Domain overlap (PFAM):

C1:
PF0218118=FH2=FE(14.2=100)
A:
NA
C2:
PF0218118=FH2=FE(16.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTTGAGCTGAGCTACCTGG
R:
CTATTGCAGACACGGCGGT
Band lengths:
346-742
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