HsaEX6058456 @ hg38
Exon Skipping
Gene
ENSG00000172752 | COL6A5
Description
collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674]
Coordinates
chr3:130405993-130406321:+
Coord C1 exon
chr3:130405993-130406019
Coord A exon
chr3:130406131-130406175
Coord C2 exon
chr3:130406268-130406321
Length
45 bp
Sequences
Splice sites
3' ss Seq
TGTCTATTGTCATCTCTCAGGGA
3' ss Score
9.56
5' ss Seq
GAGGTAAGC
5' ss Score
9.85
Exon sequences
Seq C1 exon
GGACTCAAAGGATTTTCTGGACCTAAG
Seq A exon
GGAGGTCATGGAGACGATGGGATTGATGGACTTGATGGGGAAGAG
Seq C2 exon
GGCTGTCATGGATTTCCTGGAATAAAAGGAGAAAAAGGTGATCCAGGATCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752-'18-17,'18-16,19-17=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(0.1=0.0),PF0139113=Collagen=FE(9.4=100)
A:
PF0139113=Collagen=FE(19.7=100),PF0139113=Collagen=PU(18.3=73.3)
C2:
PF0139113=Collagen=FE(23.9=100),PF0139113=Collagen=FE(28.3=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGACTCAAAGGATTTTCTGGACCT
R:
ATCCTGGATCACCTTTTTCTCCT
Band lengths:
76-121
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains