HsaEX0013065 @ hg38
Exon Skipping
Gene
ENSG00000120051 | CFAP58
Description
cilia and flagella associated protein 58 [Source:HGNC Symbol;Acc:HGNC:26676]
Coordinates
chr10:104370895-104380220:+
Coord C1 exon
chr10:104370895-104371054
Coord A exon
chr10:104376811-104376893
Coord C2 exon
chr10:104380029-104380220
Length
83 bp
Sequences
Splice sites
3' ss Seq
TTTTCTCCCTGGGGATTCAGAGG
3' ss Score
4.15
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GCCAAAGAGGAAGAAGTCCATCAAATGCGCCTTGACATCGGGAAGCTCAACAAAATCAGAGAACAAATTCATAAGAAATTGCACCACACCGAAGATCAAAAGGCAGAAGTCGAACAGCACAAAGAAACCCTAAAAAATCAGATTGTGGGATTAGAGAGAG
Seq A exon
AGGTAGAGGCTTCAAAGAAACAAGCAGAACTTGACAGAAAGGCAATGGACGAGCTTCTAAGAGAAAGGGACATACTAAATAAG
Seq C2 exon
AACATGCTTAAGGCGGTCAATGCGACCCAGAAGCAGACAGACTTGGTAAAGCTCCATGAACAAGCCAAGAGGAACCTGGAGGGAGAAATCCAGAACTACAAGGATGAGGCTCAGAAGCAGAGAAAGATCATCTTTCATCTGGAAAAGGAGCGTGACCGGTACATCAACCAAGCCAGTGACCTTACGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120051_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.593 A=0.340 C2=0.301
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF060089=Laminin_I=FE(75.0=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCATCAAATGCGCCTTGACA
R:
GCATTGACCGCCTTAAGCATG
Band lengths:
167-250
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development