HsaEX6009040 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94406250-94408236:+
Coord C1 exon
chr7:94406250-94406303
Coord A exon
chr7:94407847-94407891
Coord C2 exon
chr7:94408183-94408236
Length
45 bp
Sequences
Splice sites
3' ss Seq
CTCAATCCTTCTCCATGTAGGGT
3' ss Score
8.99
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
GGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAG
Seq A exon
GGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACA
Seq C2 exon
GGAGCCCGTGGGCTTCCTGGTGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'17-22,'17-19,18-22
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(21.8=100),PF0139113=Collagen=PU(16.9=77.8)
A:
PF0139113=Collagen=PD(10.3=53.3),PF0139113=Collagen=FE(16.9=100)
C2:
PF0139113=Collagen=FE(20.5=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGACACAATGGTCTGGATGGA
R:
CACCAACACGTCCTCTCTCAC
Band lengths:
94-139
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains