HsaEX6009027 @ hg38
Exon Skipping
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94413894-94415270:+
Coord C1 exon
chr7:94413894-94413947
Coord A exon
chr7:94414222-94414275
Coord C2 exon
chr7:94415226-94415270
Length
54 bp
Sequences
Splice sites
3' ss Seq
GTATTTCTTTTCATTTTTAGGGT
3' ss Score
11.83
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
Exon sequences
Seq C1 exon
GGTGTTCAAGGTGGAAAAGGTGAACAGGGTCCCCCTGGTCCTCCAGGCTTCCAG
Seq A exon
GGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGG
Seq C2 exon
GGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'37-42,'37-41,38-42
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:
NO
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:
GGTGTTCAAGGTGGAAAAGGTG
R:
CCAGCAGGACCAGGGAGAC
Band lengths:
92-146
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains