HsaEX6066209 @ hg38
Exon Skipping
Gene
ENSG00000139219 | COL2A1
Description
collagen type II alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2200]
Coordinates
chr12:47983683-47984599:-
Coord C1 exon
chr12:47984546-47984599
Coord A exon
chr12:47984087-47984140
Coord C2 exon
chr12:47983683-47983736
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCTTTTTCTCTTCTGTCTAGGGT
3' ss Score
10.6
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GGTGAGCCTGGCAAAGCTGGTGAGAAGGGACTGCCTGGTGCTCCTGGTCTGAGG
Seq A exon
GGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCT
Seq C2 exon
GGACCTGCTGGTGAACGAGGCGAGCAGGGTGCTCCTGGGCCATCTGGGTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219-'36-39,'36-37,37-39=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:
NO
A:
NO
C2:
NO
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:
CTGGCAAAGCTGGTGAGAAGG
R:
TGGAACCCAGATGGCCCAG
Band lengths:
100-154
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains