HsaEX6009038 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94408183-94408823:+
Coord C1 exon
chr7:94408183-94408236
Coord A exon
chr7:94408336-94408377
Coord C2 exon
chr7:94408770-94408823
Length
42 bp
Sequences
Splice sites
3' ss Seq
TCCCTTTATTTTCTTCTTAGGGT
3' ss Score
10.74
5' ss Seq
CCTGCTGTA
5' ss Score
-35.96
Exon sequences
Seq C1 exon
GGAGCCCGTGGGCTTCCTGGTGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCT
Seq A exon
GGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCT
Seq C2 exon
GGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'19-24,'19-23,20-24
Average complexity
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(20.5=100)
A:
PF0139113=Collagen=FE(16.9=100),PF0139113=Collagen=PU(5.9=33.3)
C2:
PF0139113=Collagen=FE(20.5=100),PF0139113=Collagen=FE(20.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCGTGGGCTTCCTGGTG
R:
GGCACCTGGGAAGCCTGG
Band lengths:
92-134
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains