HsaEX0016420 @ hg38
Exon Skipping
Gene
ENSG00000101203 | COL20A1
Description
collagen type XX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:14670]
Coordinates
chr20:63322058-63325494:+
Coord C1 exon
chr20:63322058-63322111
Coord A exon
chr20:63325269-63325364
Coord C2 exon
chr20:63325441-63325494
Length
96 bp
Sequences
Splice sites
3' ss Seq
CCCGCTGCCTGTGTCTCCAGGGA
3' ss Score
10.36
5' ss Seq
GTGGTAGGT
5' ss Score
7.23
Exon sequences
Seq C1 exon
GGCCTCCCTGGGAGGAATGGCACCCCAGGAGAGCAGGGCTTCCCAGGGCCCAGG
Seq A exon
GGAGAGCCCGGGCCACCCGGACAGATGGGACCAGAAGGTCCTGGAGGCCAGCAGGGCTCGCCGGGGACCCAGGGCCGTGCAGTCCAGGGGCCTGTG
Seq C2 exon
GGTCCACCAGGGGTCAAAGGAGAGAAGGGAGACCATGGGCTTCCAGGCTTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101203_MULTIEX1-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(22.4=100)
A:
PF0139113=Collagen=PD(47.5=87.5),PF0139113=Collagen=PU(11.9=21.9)
C2:
PF0139113=Collagen=FE(28.8=100),PF0139113=Collagen=PU(21.6=61.1)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCCTGGGAGGAATGGCA
R:
GCAAGCCTGGAAGCCCATG
Band lengths:
103-199
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