HsaEX6066224 @ hg38
Exon Skipping
Gene
ENSG00000139219 | COL2A1
Description
collagen type II alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2200]
Coordinates
chr12:47975963-47976919:-
Coord C1 exon
chr12:47976812-47976919
Coord A exon
chr12:47976514-47976567
Coord C2 exon
chr12:47975963-47976070
Length
54 bp
Sequences
Splice sites
3' ss Seq
TGCCTCTTCCTTCTACACAGGGT
3' ss Score
9.58
5' ss Seq
AGAGTAAGT
5' ss Score
9.35
Exon sequences
Seq C1 exon
GGTCCTCAAGGCCCCAGAGGTGACAAAGGAGAGGCTGGAGAGCCTGGCGAGAGAGGCCTGAAGGGACACCGTGGCTTCACTGGTCTGCAGGGTCTGCCCGGCCCTCCT
Seq A exon
GGTCCTTCTGGAGACCAAGGTGCTTCTGGTCCTGCTGGTCCTTCTGGCCCTAGA
Seq C2 exon
GGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219-'57-60,'57-59,58-60=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(17.6=41.7),PF0139113=Collagen=FE(42.7=100)
A:
PF0139113=Collagen=FE(20.7=100),PF0139113=Collagen=PU(12.7=44.4)
C2:
PF0139113=Collagen=PD(18.3=41.7),PF0139113=Collagen=FE(55.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACAAAGGAGAGGCTGGAGA
R:
GCCAGGGATTCCATTAGCACC
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