HsaEX0052831 @ hg38
Exon Skipping
Gene
ENSG00000135870 | RC3H1
Description
ring finger and CCCH-type domains 1 [Source:HGNC Symbol;Acc:HGNC:29434]
Coordinates
chr1:173970505-173978620:-
Coord C1 exon
chr1:173978488-173978620
Coord A exon
chr1:173972509-173972627
Coord C2 exon
chr1:173970505-173970617
Length
119 bp
Sequences
Splice sites
3' ss Seq
CATTATCATTGGTTGTATAGATG
3' ss Score
3.95
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
TTGCAGACTCCAGCCTCTTTTGCACAGAGTGTTCAGGAACTAACAATTGCTCTCCAGCGAACTGGAGACCCAGCAAACTTGAACCGACTAAGACCCCATTTGGAGCTGTTAGCAAACATTGACCCTAGTCCAG
Seq A exon
ATGCTCCTCCTCCTACTTGGGAACAGCTGGAAAATGGGCTGGTTGCTGTGCGTACAGTGGTACATGGGCTGGTTGATTATATCCAGAACCACAGCAAAAAAGGAGCAGATCAGCAGCAG
Seq C2 exon
CCTCCACAGCATAGCAAATACAAAACATACATGTGTCGAGATATGAAGCAGAGAGGAGGATGCCCTCGTGGGGCCAGCTGTACATTTGCACACTCACAGGAGGAACTGGAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135870_MULTIEX1-4/8=3-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.422 A=0.500 C2=0.737
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0064219=zf-CCCH=WD(100=71.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAGACTCCAGCCTCTTTTG
R:
TCCAGTTCCTCCTGTGAGTGT
Band lengths:
242-361
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