HsaEX0016409 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94412584-94413743:+
Coord C1 exon
chr7:94412584-94412682
Coord A exon
chr7:94413083-94413136
Coord C2 exon
chr7:94413690-94413743
Length
54 bp
Sequences
Splice sites
3' ss Seq
GTTTTTCATTTTTACTCTAGGGT
3' ss Score
9.27
5' ss Seq
CGGGTAGGT
5' ss Score
8.53
Exon sequences
Seq C1 exon
GGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACT
Seq A exon
GGTGATCCTGGCAAAAACGGTGATAAAGGTCATGCTGGTCTTGCTGGTGCTCGG
Seq C2 exon
GGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'34-36,'34-35,35-36
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(45.7=100)
A:
PF0139113=Collagen=FE(24.3=100)
C2:
PF0139113=Collagen=PD(12.9=50.0)
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:
CCTCCCTGGCATCGACGG
R:
GGTCCCTGAGCACCATTGTTT
Band lengths:
138-192
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