HsaEX0074087 @ hg38
Exon Skipping
Gene
ENSG00000221994 | ZNF630
Description
zinc finger protein 630 [Source:HGNC Symbol;Acc:HGNC:28855]
Coordinates
chrX:48060450-48067061:-
Coord C1 exon
chrX:48066872-48067061
Coord A exon
chrX:48060819-48060945
Coord C2 exon
chrX:48060450-48060545
Length
127 bp
Sequences
Splice sites
3' ss Seq
ACAGGAATGTGCTGTTATAGGAA
3' ss Score
4.79
5' ss Seq
TGGGTAAGG
5' ss Score
9.08
Exon sequences
Seq C1 exon
GACGAAGTTCCGGAAATGGAATTACCGAGTCAGATGAGAAACACAAGTCATCAATGAATTAACAAGCAACACATTGTCACATCCAGCTGTTGAAGAGTGGTTAACTCAGCTTGATCTCCGAAGACTCTTCTGCACCCCACCCCGCCCCCAACTGCTTTCCAAAGAGAAACAGAAAATGATTGAGTCCCAG
Seq A exon
GAACCAGTGACATTTGAGGATGTGGCTGTGGACTTCACGCAGGAAGAGTGGCAGCAGTTGAATCCTGCTCAGAAGACCCTGCATAGGGATGTGATGCTGGAGACCTATAATCACCTGGTCTCCGTGG
Seq C2 exon
GGTGTTCAGGTATAAAACCAGATGTAATCTTTAAGTTGGAACATGGAAAGGACCCATGGATCATAGAGAGTGAGTTGTCAAGGTGGATCTACCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000221994_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.002 C2=0.000
Domain overlap (PFAM):
C1:
PF0135222=KRAB=PU(3.2=20.0)
A:
PF0135222=KRAB=FE(90.3=100)
C2:
PF0135222=KRAB=PD(0.1=0.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCGAGTCAGATGAGAAACACA
R:
TCCACCTTGACAACTCACTCTCT
Band lengths:
254-381
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