HsaEX6062901 @ hg38
Exon Skipping
Gene
ENSG00000056586 | RC3H2
Description
ring finger and CCCH-type domains 2 [Source:HGNC Symbol;Acc:HGNC:21461]
Coordinates
chr9:122865349-122879873:-
Coord C1 exon
chr9:122879755-122879873
Coord A exon
chr9:122877471-122877583
Coord C2 exon
chr9:122865349-122865657
Length
113 bp
Sequences
Splice sites
3' ss Seq
ATGTGTTCCCATTTTTGTAGCCT
3' ss Score
7.55
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
ACGCTGTTTCACCAACTTGGGAGCAGCTGGAAAATGCAATGGTAGCTGTTAAAACAGTAGTTCATGGCCTTGTGGACTTCATACAAAATTATAGTAGAAAAGGCCATGAGACCCCTCAG
Seq A exon
CCTCAGCCAAACAGCAAATACAAGACTAGCATGTGCCGAGATTTGCGACAGCAAGGGGGTTGTCCACGAGGAACAAATTGTACATTTGCCCATTCTCAGGAAGAGCTTGAAAA
Seq C2 exon
GTATCGATTAAGGAACAAAAAGATCAATGCCACTGTAAGAACGTTTCCTCTTCTAAATAAAGTTGGTGTAAACAACACTGTCACAACCACAGCCGGAAATGTCATTTCTGTCATAGGAAGTACTGAAACAACAGGGAAAATTGTTCCAAGTACAAACGGAATTTCAAATGCAGAAAACAGTGTTTCCCAGCTAATCTCACGTAGTACTGACAGTACCTTAAGAGCTCTGGAGACCGTGAAGAAAGTGGGAAAGGTTGGCGCTAATGGTCAGAATGCTGCTGGGCCCTCTGCAGATTCTGTAACTGAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000056586-'23-33,'23-28,26-33
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.354 A=0.568 C2=0.595
Domain overlap (PFAM):
C1:
PF0028516=Citrate_synt=FE(25.0=100)
A:
PF0028516=Citrate_synt=PD(19.2=78.9),PF0064219=zf-CCCH=WD(100=71.1)
C2:
NO
Main Skipping Isoform:
ENST00000357244fB24320
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTCATGGCCTTGTGGACTTCA
R:
GCTGGGAAACACTGTTTTCTGC
Band lengths:
251-364
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains