HsaEX0052827 @ hg38
Exon Skipping
Gene
ENSG00000135870 | RC3H1
Description
ring finger and CCCH-type domains 1 [Source:HGNC Symbol;Acc:HGNC:29434]
Coordinates
chr1:173984499-173993072:-
Coord C1 exon
chr1:173992755-173993072
Coord A exon
chr1:173985090-173985155
Coord C2 exon
chr1:173984499-173984619
Length
66 bp
Sequences
Splice sites
3' ss Seq
TACAATGGAATTTTATTCAGTGA
3' ss Score
3.63
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
Exon sequences
Seq C1 exon
CTTTTTTTCAAAGATTTTGATTCCAGTGGAATCTTTGCTTTAGATTTGTGTGTGTGTTTGTGTTCGTGAATTGTAACTCCAGAAGCAATGCCTGTACAAGCTCCACAATGGACGGATTTCCTCTCCTGCCCAATTTGCACTCAGACTTTCGACGAAACAATTCGAAAGCCCATCAGTTTGGGTTGTGGCCATACTGTCTGCAAGATGTGCCTGAATAAACTCCACCGCAAGGCTTGCCCATTTGACCAGACCACTATCAATACAGACATTGAGCTCCTCCCTGTGAACTCAGCATTGCTGCAGCTCGTGGGTGCTCAG
Seq A exon
TGATGAAAATGAATGAAGTACTGATACAACCTGGAAGACCCTTGAACACATTGTTAAGTGAAAGAA
Seq C2 exon
GTCCCTGAGCAGCAGCCTATTACTTTGTGTAGTGGGGTTGAAGACACAAAGCATTATGAGGAAGCCAAGAAATGTGTAGAAGAATTAGCATTGTACTTAAAACCGCTCAGCAGTGCTAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135870_MULTIEX2-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF052906=Baculo_IE-1=WD(100=72.7),PF0136316=FYVE=WD(100=81.8),PF134451=zf-RING_UBOX=WD(100=57.1)
A:
NA
C2:
PF0136316=FYVE=PD(27.0=65.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATTGAGCTCCTCCCTGTGA
R:
AGCACTGCTGAGCGGTTTTAA
Band lengths:
170-236
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