HsaEX0052840 @ hg38
Exon Skipping
Gene
ENSG00000056586 | RC3H2
Description
ring finger and CCCH-type domains 2 [Source:HGNC Symbol;Acc:HGNC:21461]
Coordinates
chr9:122851081-122854086:-
Coord C1 exon
chr9:122853952-122854086
Coord A exon
chr9:122851323-122851436
Coord C2 exon
chr9:122851081-122851229
Length
114 bp
Sequences
Splice sites
3' ss Seq
AAAATCAGTATTTTTCTTAGTTA
3' ss Score
0.41
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
Exon sequences
Seq C1 exon
GCCAAGAGCAACTCATTACTTCTTCAGAGAGAGGCCAATGCTTTGGCCATGCAACAGAAGTGGAATTCCCTGGATGAAGGCCGTCACCTTACCTTAAACCTTTTAAGCAAGGAAATTGAACTAAGAAATGGAGAG
Seq A exon
TTACAGAGTGATTATACAGAAGATGCAACAGATACTAAACCTGATAGGGATATCGAGTTAGAGCTTTCAGCACTTGATACTGATGAACCTGATGGACAAAGTGAACCAATTGAA
Seq C2 exon
GAGATCTTGGACATACAGCTTGGTATCAGTTCTCAAAATGATCAGTTGCTAAATGGAATGGCAGTGGAAAATGGGCATCCAGTACAGCAGCACCAAAAGGAGCCACCAAAGCAGAAGAAACAGAGTTTAGGTGAAGACCATGTGATTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000056586_MULTIEX4-1/2=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.151 A=1.000 C2=0.750
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCAAGAGCAACTCATTACTTCT
R:
CTTCTGCTTTGGTGGCTCCTT
Band lengths:
252-366
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development