HsaEX0016517 @ hg19
Exon Skipping
Gene
ENSG00000139219 | COL2A1
Description
collagen, type II, alpha 1 [Source:HGNC Symbol;Acc:2200]
Coordinates
chr12:48366719-48374444:-
Coord C1 exon
chr12:48374337-48374444
Coord A exon
chr12:48373792-48373845
Coord C2 exon
chr12:48366719-48366940
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCTCCCTCTTTCCTTTCCAGGGT
3' ss Score
13.31
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
GGTGCTGATGGCCAGCCTGGGGCCAAGGGTGAGCAAGGAGAGGCCGGCCAGAAAGGCGATGCTGGTGCCCCTGGTCCTCAGGGCCCCTCTGGAGCACCTGGGCCTCAG
Seq A exon
GGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCG
Seq C2 exon
GCAGGAAACTAACTGGTGTGAGTCAAATGCCCCCTGAGTGACTGCCCCCAGCCCAGGCCAGAAGACCTCCCTTCAGGTGCCGGGCGCAGGAACTGTGTGTGTCCTACACAATGGTGCTATTCTGTGTCAAACACCTCTGTATTTTTTAAAACATCAATTGATATTAAAAATGAAAAGATTATTGGAAAGTACATATTGACTTGTGGTTTGTTCTTTAGTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219_MULTIEX1-33/47=32-C2
Average complexity
C2
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=NA
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(29.0=55.6),PF0139113=Collagen=PU(36.4=66.7)
A:
PF0139113=Collagen=FE(25.8=100)
C2:
NA
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:
CCAGAAAGGCGATGCTGGTG
R:
GCACCTGAAGGGAGGTCTTCT
Band lengths:
141-195
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
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)