HsaEX6009039 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94407847-94408380:+
Coord C1 exon
chr7:94407847-94407891
Coord A exon
chr7:94408183-94408236
Coord C2 exon
chr7:94408336-94408380
Length
54 bp
Sequences
Splice sites
3' ss Seq
GAAAATATTTCTGCTTCTAGGGA
3' ss Score
7.03
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GGTGAACCTGGTGCCCCTGGTGAAAATGGAACTCCAGGTCAAACA
Seq A exon
GGAGCCCGTGGGCTTCCTGGTGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCT
Seq C2 exon
GGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'18-23,'18-22,19-23
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=PD(10.3=53.3),PF0139113=Collagen=FE(16.9=100)
A:
PF0139113=Collagen=FE(20.5=100)
C2:
PF0139113=Collagen=FE(16.9=100),PF0139113=Collagen=PU(5.9=33.3)
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:
GGTGAACCTGGTGCCCCT
R:
GACCCACGGGACCCACAC
Band lengths:
85-139
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains