HsaEX6066218 @ hg38
Exon Skipping
Gene
ENSG00000139219 | COL2A1
Description
collagen type II alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2200]
Coordinates
chr12:47980554-47981396:-
Coord C1 exon
chr12:47981343-47981396
Coord A exon
chr12:47980915-47980968
Coord C2 exon
chr12:47980554-47980661
Length
54 bp
Sequences
Splice sites
3' ss Seq
CATGCCCCCTTCTCTCACAGGGT
3' ss Score
11.72
5' ss Seq
CCTGTGAGT
5' ss Score
7.21
Exon sequences
Seq C1 exon
GGAGAAGTTGGACCTCCTGGTCCTGCAGGAAGTGCTGGTGCTCGTGGCGCTCCG
Seq A exon
GGTGAACGTGGAGAGACTGGGCCCCCCGGACCAGCGGGATTTGCTGGGCCTCCT
Seq C2 exon
GGTGCTGATGGCCAGCCTGGGGCCAAGGGTGAGCAAGGAGAGGCCGGCCAGAAAGGCGATGCTGGTGCCCCTGGTCCTCAGGGCCCCTCTGGAGCACCTGGGCCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219-'46-48,'46-47,47-48=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=PD(5.6=22.2),PF0139113=Collagen=FE(24.6=100)
A:
PF0139113=Collagen=FE(24.6=100)
C2:
PF0139113=Collagen=PD(29.0=55.6),PF0139113=Collagen=PU(36.4=66.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGAAGTTGGACCTCCTGG
R:
CAGAGGGGCCCTGAGGAC
Band lengths:
145-199
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains