HsaEX0016518 @ hg38
Exon Skipping
Gene
ENSG00000139219 | COL2A1
Description
collagen type II alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2200]
Coordinates
chr12:47978597-47980062:-
Coord C1 exon
chr12:47980009-47980062
Coord A exon
chr12:47979511-47979564
Coord C2 exon
chr12:47978597-47978758
Length
54 bp
Sequences
Splice sites
3' ss Seq
GCTCTCCTCTCCCCACACAGGGA
3' ss Score
10.06
5' ss Seq
AATGTAAGT
5' ss Score
8.62
Exon sequences
Seq C1 exon
GGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCG
Seq A exon
GGAGCCACTGGATTCCCTGGAGCTGCTGGCCGCGTTGGACCCCCAGGCTCCAAT
Seq C2 exon
GGCAACCCTGGACCCCCTGGTCCCCCTGGTCCTTCTGGAAAAGATGGTCCCAAAGGTGCTCGAGGAGACAGCGGCCCCCCTGGCCGAGCTGGTGAACCCGGCCTCCAAGGTCCTGCTGGACCCCCTGGCGAGAAGGGAGAGCCTGGAGATGACGGTCCCTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219-'49-51,'49-50,50-51=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=FE(25.8=100)
A:
PF0139113=Collagen=FE(22.7=100),PF0139113=Collagen=PU(13.4=61.1)
C2:
PF0139113=Collagen=PD(6.7=9.3),PF0139113=Collagen=FE(64.6=100),PF0139113=Collagen=PU(34.5=53.7)
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:
CCTACTGGAGTGACTGGTCCT
R:
GTTCACCAGCTCGGCCAG
Band lengths:
148-202
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development