HsaEX6009028 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94413690-94414275:+
Coord C1 exon
chr7:94413690-94413743
Coord A exon
chr7:94413894-94413947
Coord C2 exon
chr7:94414222-94414275
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTCTTTCCTGTCACTTTCAGGGT
3' ss Score
12.16
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
GGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAG
Seq A exon
GGTGTTCAAGGTGGAAAAGGTGAACAGGGTCCCCCTGGTCCTCCAGGCTTCCAG
Seq C2 exon
GGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'36-41,'36-39,37-41=AN
Average complexity
A_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(12.9=50.0)
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:
GGTGCTCCAGGTCCTGATGG
R:
CCTTTCTCCTGGTTTGCCAACT
Band lengths:
108-162
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains