HsaEX0052844 @ hg38
Exon Skipping
Gene
ENSG00000056586 | RC3H2
Description
ring finger and CCCH-type domains 2 [Source:HGNC Symbol;Acc:HGNC:21461]
Coordinates
chr9:122859917-122877583:-
Coord C1 exon
chr9:122877471-122877583
Coord A exon
chr9:122865624-122865657
Coord C2 exon
chr9:122859917-122860131
Length
34 bp
Sequences
Splice sites
3' ss Seq
GTTGATTGTTTTTGAAACAGGTA
3' ss Score
6.66
5' ss Seq
ACTGTAAGA
5' ss Score
4.8
Exon sequences
Seq C1 exon
CCTCAGCCAAACAGCAAATACAAGACTAGCATGTGCCGAGATTTGCGACAGCAAGGGGGTTGTCCACGAGGAACAAATTGTACATTTGCCCATTCTCAGGAAGAGCTTGAAAA
Seq A exon
GTATCGATTAAGGAACAAAAAGATCAATGCCACT
Seq C2 exon
TAAAATTGGTTCTCCACCCAAGACTCCTGTAAGTAATGTAGCAGCTACCTCAGCTGGGCCCTCTAATGTTGGAACAGAGCTGAATTCTGTGCCTCAAAAATCCAGCCCATTTCTAACTAGAGTACCAGTATATCCTCCGCATTCTGAAAACATTCAGTATTTTCAAGATCCAAGGACTCAGATACCCTTTGAAGTCCCACAGTACCCACAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000056586_MULTIEX1-1/3=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.568 A=0.578 C2=0.945
Domain overlap (PFAM):
C1:
PF0028516=Citrate_synt=PD(19.2=78.9),PF0064219=zf-CCCH=WD(100=71.1)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAGACTAGCATGTGCCGAG
R:
ACAGGAGTCTTGGGTGGAGAA
Band lengths:
124-158
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development