HsaALTA1046547-2/2 @ hg38
Alternative 3'ss
Gene
ENSG00000172969 | FRG2C
Description
FSHD region gene 2 family member C [Source:HGNC Symbol;Acc:HGNC:33626]
Coordinates
chr3:75664330-75664896:+
Coord C1 exon
chr3:75664330-75664557
Coord A exon
chr3:75664819-75664821
Coord C2 exon
chr3:75664822-75664896
Length
3 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
3' ss Seq
ATCTAAACCTTCTCTTGCAGCAG
3' ss Score
7.57
Exon sequences
Seq C1 exon
ACTCTGCCTTTGGACATGTGAGAGAGCGCACCTTTCACTTGAGCTTCAACATGGGAAAGGGAAATGAAGACCCCGATCTCCACTGTTCCTCCATCCAGTGCTCCACTGACCAGCCCCCTTTCCAACAGATCTCCTTTACAGAAAAGGGCTCAGATGAGAAGAAACCATTCAAAGGAAAAGGCAAGACCGCCTTCTCCCATTCCAGTGAGAAGCACACACAAAGGCAAG
Seq A exon
CAG
Seq C2 exon
GATCAGATCCCAATCCAAACAAGGAGAATTCTGAGGAAACCAAGCTCAAGGCCGGGAACAGCACTGCTGGATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172969-0-2,0-1-2/2
Average complexity
Alt3
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.983 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF153151=FRG2=PU(0.1=0.0)
A:
NA
C2:
PF153151=FRG2=PU(13.7=96.2)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGACCGCCTTCTCCCATTC
R:
GCCTTGAGCTTGGTTTCCTCA
Band lengths:
99-102
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains