Special

HsaINT0064156 @ hg38

Intron Retention

Gene
Description
formin homology 2 domain containing 1 [Source:HGNC Symbol;Acc:HGNC:17905]
Coordinates
chr16:67230066-67230506:-
Coord C1 exon
chr16:67230314-67230506
Coord A exon
chr16:67230229-67230313
Coord C2 exon
chr16:67230066-67230228
Length
85 bp
Sequences
Splice sites
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
3' ss Seq
CACCCTTCTTCTTTCTCCAGACA
3' ss Score
10.28
Exon sequences
Seq C1 exon
GTTCCATGCCTTCCTGCTCTACCTGGGCTACACCCCGCAGGCGGCCCGTGAAGTGCGCATCATGCAGTTCTGCCACACGCTGCGGGAATTTGCGCTTGAGTATCGGACTTGCCGGGAACGAGTGCTACAGCAGCAGCAGAAGCAGGCCACATACCGTGAGCGCAACAAGACCCGGGGACGCATGATCACCGAG
Seq A exon
GTGGGTGCCCTTCCAGGTCTTAGTCTTGACTGCCACCTCCTTGGTTTCCTTCGCTCCTCCCAGCTCACCCTTCTTCTTTCTCCAG
Seq C2 exon
ACAGAGAAGTTCTCAGGTGTGGCTGGGGAAGCCCCCAGCAACCCCTCTGTCCCAGTAGCAGTGAGCAGCGGGCCAGGCCGGGGAGATGCTGACAGTCATGCTAGTATGAAGAGTCTGCTGACCAGCAGGCCTGAGGACACCACACACAATCGCCGCAGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135723:ENST00000258201:19
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.338 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0218118=FH2=PD(9.4=53.8)
A:
NA
C2:
NO


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:
CTACAGCAGCAGCAGAAGCAG
R:
GCATGACTGTCAGCATCTCCC
Band lengths:
170-255
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