HsaEX6058448 @ hg38
Exon Skipping
Gene
ENSG00000172752 | COL6A5
Description
collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674]
Coordinates
chr3:130415645-130418931:+
Coord C1 exon
chr3:130415645-130415707
Coord A exon
chr3:130416757-130416819
Coord C2 exon
chr3:130418869-130418931
Length
63 bp
Sequences
Splice sites
3' ss Seq
GTCTCTAATTTTTTTTTCAGGGT
3' ss Score
10.43
5' ss Seq
AAAGTAGAT
5' ss Score
0.25
Exon sequences
Seq C1 exon
GGGTCACAGGGAAATCCTGGCAGAAAAGGAGAAAAAGGAAGCCAGGGGCAGAAAGGACCTCAG
Seq A exon
GGTTCTCCTGGGCTAATGGGAGCTAAAGGGAGCACTGGAAGACCTGGACTTTTGGGGAAAAAA
Seq C2 exon
GGAGAGCCTGGACTTCCTGGAGATCTAGGGCCAGTGGGGCAAACTGGGCAGCGAGGAAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752_CASSETTE1
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(27.4=100)
A:
PF0139113=Collagen=FE(27.4=100),PF0139113=Collagen=PU(16.3=66.7)
C2:
PF0139113=Collagen=PD(11.0=38.1),PF0139113=Collagen=FE(23.3=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:
AGGGAAATCCTGGCAGAAAAGG
R:
TCTTCCTCGCTGCCCAGTTT
Band lengths:
116-179
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains