HsaEX6058435 @ hg38
Exon Skipping
Gene
ENSG00000172752 | COL6A5
Description
collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674]
Coordinates
chr3:130468795-130471926:+
Coord C1 exon
chr3:130468795-130469481
Coord A exon
chr3:130470871-130470967
Coord C2 exon
chr3:130471682-130471926
Length
97 bp
Sequences
Splice sites
3' ss Seq
CCAGCCCACTCTCTCTCCAGGTG
3' ss Score
11.63
5' ss Seq
ATTGTGAGT
5' ss Score
7.35
Exon sequences
Seq C1 exon
TCCACTGACCTCCACCTTAGGAGACAGGGTTGCTGTCCTGAGCTACTCTCCTCCAGGCTATATGCCTAACACTGAAGAATGCCCTGTCTACCTGGAATTTGATTTGGTTACTTATAACAGTATACACCAAATGAAACATCATCTCCAAGACTCTCAACAGCTCAATGGAGATGTTTTTATTGGCCATGCCTTGCAGTGGACAATTGACAATGTCTTTGTAGGAACCCCCAATCTGAGGAAAAACAAAGTTATCTTTGTAATATCTGCTGGCGAAACCAACTCTTTAGACAAAGACGTCTTAAGGAATGTGTCTCTGAGAGCCAAGTGTCAAGGCTACTCCATATTTGTGTTTTCCTTTGGCCCTAAACACAATGACAAAGAATTAGAAGAATTAGCCAGCCACCCTCTGGATCATCACTTGGTCCAACTTGGCCGAACCCACAAGCCAGATTGGAACTATATCATCAAGTTTGTCAAGCCATTTGTCCATTTAATCAGAC
Seq A exon
GTGCCATCAACAAATATCCCACCGAAGATATGAAAGCCACATGTGTTAACATGACCTCTCCCAACCCAGAGAACGGTGGCACAGAAAACACTGTATT
Seq C2 exon
ACTTCTTCCTGGGATATATGAAATAAAGACAGAAAATGGTGATCTGTTTGATGAATTTGATTCCCAGGCACAACATCTCCTTGTATTAGGGAACAATCATAGTAGTGGTTCTGAGACAGCTACTGATTTGATGCAGAAGTTATATCTGCTCTTTTCAACTGAGAAACTGGCAATGAAAGACAAGGAAAAAGCACATTTAGAAGAAATTTCAGCTCTAGTGGTTGATAAACAGCAAGAAAAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752-'55-52,'55-51,56-52=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.096 A=0.509 C2=0.193
Domain overlap (PFAM):
C1:
PF0009223=VWA=WD(100=80.0)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
ATCACTTGGTCCAACTTGGCC
R:
CAAGGAGATGTTGTGCCTGGG
Band lengths:
170-267
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains