HsaEX6066212 @ hg38
Exon Skipping
Gene
ENSG00000139219 | COL2A1
Description
collagen type II alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2200]
Coordinates
chr12:47982848-47983438:-
Coord C1 exon
chr12:47983385-47983438
Coord A exon
chr12:47983093-47983137
Coord C2 exon
chr12:47982848-47982946
Length
45 bp
Sequences
Splice sites
3' ss Seq
CATCTTTCTTTGTTCTCCAGGGT
3' ss Score
10
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
Exon sequences
Seq C1 exon
GGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAG
Seq A exon
GGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGG
Seq C2 exon
GGTGAACGAGGTTTCCCAGGTGAACGTGGCTCTCCCGGTGCCCAGGGCCTCCAGGGTCCCCGTGGCCTCCCCGGCACTCCTGGCACTGATGGTCCCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219-'39-42,'39-41,40-42=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=PU(6.9=27.8)
A:
PF0139113=Collagen=FE(19.4=100)
C2:
PF0139113=Collagen=FE(44.4=100),PF0139113=Collagen=PU(41.5=81.8)
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:
GGACTTCCTGGCCCTCCTG
R:
GACCATCAGTGCCAGGAGTG
Band lengths:
148-193
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains