HsaEX6017422 @ hg38
Exon Skipping
Gene
ENSG00000204262 | COL5A2
Description
collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210]
Coordinates
chr2:189053424-189054212:-
Coord C1 exon
chr2:189054159-189054212
Coord A exon
chr2:189053895-189053948
Coord C2 exon
chr2:189053424-189053477
Length
54 bp
Sequences
Splice sites
3' ss Seq
ATCTAAAATCTGCTTTCTAGGGT
3' ss Score
7.03
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAG
Seq A exon
GGTGAACCTGGTCCTCGAGGTTTAGTTGGCCCTCCTGGCTCCCGGGGCAATCCT
Seq C2 exon
GGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204262-'52-48,'52-47,53-48
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(20.2=100)
A:
PF0139113=Collagen=FE(20.2=100)
C2:
PF0139113=Collagen=FE(20.2=100),PF0139113=Collagen=PU(23.9=94.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTCTTCCAGGTCCTTTGGGC
R:
CTGGGGTCCGGCAAAACC
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