HsaEX0016411 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94417724-94419551:+
Coord C1 exon
chr7:94417724-94417831
Coord A exon
chr7:94418499-94418552
Coord C2 exon
chr7:94419498-94419551
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTCTTGCTTTATACTTTCAGGGT
3' ss Score
8.9
5' ss Seq
CGTGTGAGT
5' ss Score
7.42
Exon sequences
Seq C1 exon
GGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGCTGGTCCATCTGGTCCTAGTGGACTCCCAGGAGAGAGGGGTGCTGCTGGCATACCTGGAGGCAAGGGAGAAAAG
Seq A exon
GGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGT
Seq C2 exon
GGTGCTCCTGGTGCTGTAGGTGCCCCTGGTCCTGCTGGAGCCACAGGTGACCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'43-50,'43-48,46-50
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(53.8=100)
A:
PF0139113=Collagen=PD(10.8=38.9)
C2:
NO
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:
CTGGTGTGGTTGGTGCTGTG
R:
TGGCTCCAGCAGGACCAG
Band lengths:
144-198
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