HsaEX6066208 @ hg38
Exon Skipping
Gene
ENSG00000139219 | COL2A1
Description
collagen type II alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2200]
Coordinates
chr12:47984087-47985093:-
Coord C1 exon
chr12:47984995-47985093
Coord A exon
chr12:47984546-47984599
Coord C2 exon
chr12:47984087-47984140
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTGCCCTCTCTTTCCTTCAGGGT
3' ss Score
12.74
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
GGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAAC
Seq A exon
GGTGAGCCTGGCAAAGCTGGTGAGAAGGGACTGCCTGGTGCTCCTGGTCTGAGG
Seq C2 exon
GGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219-'35-37,'35-36,36-37=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
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCCCCTGGTGAAGATGGTC
R:
CAGCACCTGTCTCACCATCTT
Band lengths:
132-186
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains