HsaEX6066215 @ hg19
Exon Skipping
Gene
ENSG00000139219 | COL2A1
Description
collagen, type II, alpha 1 [Source:HGNC Symbol;Acc:2200]
Coordinates
chr12:48375559-48376392:-
Coord C1 exon
chr12:48376285-48376392
Coord A exon
chr12:48375890-48375943
Coord C2 exon
chr12:48375559-48375612
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTGGTTTTCTCTTCCCTCAGGGT
3' ss Score
11.14
5' ss Seq
CGAGTAAGT
5' ss Score
10.15
Exon sequences
Seq C1 exon
GGTGCATCTGGCCCAGCAGGCCCCCCTGGGGCTCAGGGCCCTCCAGGTCTTCAGGGAATGCCTGGCGAGAGGGGAGCAGCTGGTATCGCTGGGCCCAAAGGCGACAGG
Seq A exon
GGTGACGTTGGTGAGAAAGGCCCTGAGGGAGCCCCTGGAAAGGATGGTGGACGA
Seq C2 exon
GGCCTGACAGGTCCCATTGGCCCCCCTGGCCCAGCTGGTGCTAATGGCGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219-'38-39,'38-38,39-39=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=0.950 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(23.6=47.2),PF0139113=Collagen=FE(53.8=100),PF0139113=Collagen=PU(40.8=80.6)
A:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=FE(23.9=100)
C2:
PF0139113=Collagen=FE(23.9=100),PF0139113=Collagen=PU(15.9=61.1)
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:
CCCTCCAGGTCTTCAGGGAAT
R:
CTTCTCGCCATTAGCACCAGC
Band lengths:
124-178
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)