HsaEX6058455 @ hg38
Exon Skipping
Gene
ENSG00000172752 | COL6A5
Description
collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674]
Coordinates
chr3:130406131-130409388:+
Coord C1 exon
chr3:130406131-130406175
Coord A exon
chr3:130406268-130406321
Coord C2 exon
chr3:130409326-130409388
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTTGTCTTCTTTTAGGGC
3' ss Score
13.38
5' ss Seq
CAGGTAACA
5' ss Score
8.88
Exon sequences
Seq C1 exon
GGAGGTCATGGAGACGATGGGATTGATGGACTTGATGGGGAAGAG
Seq A exon
GGCTGTCATGGATTTCCTGGAATAAAAGGAGAAAAAGGTGATCCAGGATCTCAG
Seq C2 exon
GGCAGCCCAGGTTCCAGAGGTGCCCCTGGGCAGTATGGAGAGAAGGGCTTCCCAGGGGATCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752-'19-18,'19-17,20-18=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=FE(19.7=100),PF0139113=Collagen=PU(18.3=73.3)
A:
PF0139113=Collagen=FE(23.9=100),PF0139113=Collagen=FE(28.3=100)
C2:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=FE(33.3=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:
GTCATGGAGACGATGGGATTGA
R:
TCCCCTGGGAAGCCCTTCT
Band lengths:
100-154
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains