HsaEX6009024 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94418499-94420286:+
Coord C1 exon
chr7:94418499-94418552
Coord A exon
chr7:94419498-94419551
Coord C2 exon
chr7:94420233-94420286
Length
54 bp
Sequences
Splice sites
3' ss Seq
TGTTTCCTTTTTGGTACTAGGGT
3' ss Score
7.94
5' ss Seq
CGGGTAAGC
5' ss Score
9.14
Exon sequences
Seq C1 exon
GGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCCTGGCAGAGATGGTGCTCGT
Seq A exon
GGTGCTCCTGGTGCTGTAGGTGCCCCTGGTCCTGCTGGAGCCACAGGTGACCGG
Seq C2 exon
GGCGAAGCTGGGGCTGCTGGTCCTGCTGGTCCTGCTGGTCCTCGGGGAAGCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'46-51,'46-50,47-51
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(10.8=38.9)
A:
NO
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:
GGTGAACCTGGTCTCAGAGGT
R:
TTCCCCGAGGACCAGCAG
Band lengths:
103-157
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains