HsaEX0052843 @ hg38
Exon Skipping
Gene
ENSG00000056586 | RC3H2
Description
ring finger and CCCH-type domains 2 [Source:HGNC Symbol;Acc:HGNC:21461]
Coordinates
chr9:122883204-122893026:-
Coord C1 exon
chr9:122892909-122893026
Coord A exon
chr9:122890312-122890545
Coord C2 exon
chr9:122883204-122883379
Length
234 bp
Sequences
Splice sites
3' ss Seq
TTGTTTCCCTTTTCCTAAAGGTG
3' ss Score
9.53
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
GTACCAGATCATCAGTCAATTAAGTTAAGTAATCTAGGTGAGAATAAACACTATGAGGTTGCAAAGAAATGCGTTGAGGATTTGGCACTCTACTTAAAACCACTAAGTGGAGGTAAAG
Seq A exon
GTGTAGCTAGCTTGAACCAGAGTGCACTGAGCCGTCCAATGCAAAGGAAACTGGTGACACTTGTAAACTGTCAACTGGTGGAGGAAGAAGGTCGTGTAAGAGCCATGCGAGCAGCTCGTTCCCTTGGAGAAAGAACTGTAACAGAACTGATATTACAGCACCAGAACCCTCAGCAGTTGTCTGCCAATCTATGGGCCGCTGTCAGGGCTCGAGGATGCCAGTTTTTAGGGCCAG
Seq C2 exon
CTATGCAAGAAGAGGCCTTGAAGCTGGTGTTACTGGCATTAGAAGATGGTTCTGCCCTCTCAAGGAAAGTTCTGGTACTTTTTGTTGTGCAGAGACTAGAACCAAGATTTCCTCAGGCATCAAAAACAAGTATTGGTCATGTTGTGCAACTACTGTATCGAGCTTCTTGTTTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000056586_MULTIEX3-5/7=2-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0136316=FYVE=PD(27.9=72.5)
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000357244fB24321
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTACCAGATCATCAGTCAATTAAGTT
R:
CTTAAAACAAGAAGCTCGATACAGT
Band lengths:
294-528
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