HsaEX0016624 @ hg38
Exon Skipping
Gene
ENSG00000080573 | COL5A3
Description
collagen type V alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:14864]
Coordinates
chr19:9962819-9966746:-
Coord C1 exon
chr19:9966536-9966746
Coord A exon
chr19:9966314-9966426
Coord C2 exon
chr19:9962819-9962887
Length
113 bp
Sequences
Splice sites
3' ss Seq
CCTGCCTGGCTCTGCGGCAGGGG
3' ss Score
4.97
5' ss Seq
ATCGTGAGT
5' ss Score
8.88
Exon sequences
Seq C1 exon
GGTGCCCCTGCCGAGCTGCATGGGCTGCGCAGGCGCCGGCGCTTCGTCCCAGTCCCGCTTCCAGTCGTGGAGGGCGGCCTGGAGGAGGTGCTGGCCTCGCTCACATCGCTGAGCTTGGAGCTGGAGCAGCTGCGGCGTCCTCCCGGCACTGCGGAGCGCCCGGGCCTCGTGTGCCACGAGCTGCACCGCAACCACCCGCACCTGCCTGATG
Seq A exon
GGGAATACTGGATTGACCCCAACCAGGGCTGCGCGCGGGACTCGTTCAGGGTTTTTTGCAACTTCACGGCGGGAGGAGAGACCTGCCTCTATCCCGACAAGAAGTTTGAGATC
Seq C2 exon
GTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080573_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.662 A=0.053 C2=0.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(7.9=7.0),PF0141013=COLFI=PU(12.6=38.0)
A:
PF0141013=COLFI=FE(17.3=100)
C2:
PF0141013=COLFI=FE(10.3=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCGTCCCAGTCCCGCTTC
R:
TCCCTCGACGGAATGTGCTAT
Band lengths:
234-347
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