HsaEX6066197 @ hg38
Exon Skipping
Gene
ENSG00000139219 | COL2A1
Description
collagen type II alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2200]
Coordinates
chr12:47989228-47992931:-
Coord C1 exon
chr12:47992878-47992931
Coord A exon
chr12:47989761-47989805
Coord C2 exon
chr12:47989228-47989281
Length
45 bp
Sequences
Splice sites
3' ss Seq
CACTTCCTTCTTGCTCACAGGGT
3' ss Score
8.56
5' ss Seq
CCGGTAAGT
5' ss Score
10.91
Exon sequences
Seq C1 exon
GGTCCTCGTGGCCTGCCTGGTGAAAGAGGACGGACTGGCCCTGCTGGCGCTGCG
Seq A exon
GGTGCCCGAGGCAACGATGGTCAGCCAGGCCCCGCAGGGCCTCCG
Seq C2 exon
GGTCCTGTCGGTCCTGCTGGTGGTCCTGGCTTCCCTGGTGCTCCTGGAGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219-'23-25,'23-24,24-25=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(18.3=100)
A:
PF0139113=Collagen=FE(14.3=100),PF0139113=Collagen=PU(5.7=33.3)
C2:
PF0139113=Collagen=FE(17.3=100),PF0139113=Collagen=FE(19.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCTCGTGGCCTGCCTG
R:
CTCCAGGAGCACCAGGGAAG
Band lengths:
102-147
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains