HsaEX6058437 @ hg38
Exon Skipping
Gene
ENSG00000172752 | COL6A5
Description
collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674]
Coordinates
chr3:130443476-130469481:+
Coord C1 exon
chr3:130443476-130443566
Coord A exon
chr3:130455455-130455666
Coord C2 exon
chr3:130468795-130469481
Length
212 bp
Sequences
Splice sites
3' ss Seq
AAAGTTTTTTTTTCTTCTAGATT
3' ss Score
8.68
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
GGGGATTCAATCAGTACCCACCACCGATGCTTGAGGATGCCTGTAGACTCATCAATTTAGGAGGAGAGAATATTCAAAATGATGGTTTCCA
Seq A exon
ATTTGTTACTGAGCTACAAGAGGATTTTTTGGGAGGTAATGGCTTCATTGGCCAAGAATTAAATTCTGGGAGAGAATCACCTTTTGTAAAGACGGAAGACAATGGAAGTGACTATTTGGTTTACCTTCCAAGCCAAATGTTTGAGCCACAAAAATTAATGATCAATTATGAAAAAGATCAAAAATCTGCAGAAATTGCAAGTCTCACTTCTG
Seq C2 exon
GACATGAAAATTATGGCAGAAAAGAAGAACCAGATCATACTTATGAACCTGGAGATGTCTCTCTTCAAGAATATTACATGGATGTGGCTTTCCTCATAGATGCTTCCCAAAGAGTAGGAAGTGATGAGTTTAAGGAAGTAAAAGCTTTTATAACCTCAGTGCTTGATTACTTTCACATTGCCCCCACTCCACTGACCTCCACCTTAGGAGACAGGGTTGCTGTCCTGAGCTACTCTCCTCCAGGCTATATGCCTAACACTGAAGAATGCCCTGTCTACCTGGAATTTGATTTGGTTACTTATAACAGTATACACCAAATGAAACATCATCTCCAAGACTCTCAACAGCTCAATGGAGATGTTTTTATTGGCCATGCCTTGCAGTGGACAATTGACAATGTCTTTGTAGGAACCCCCAATCTGAGGAAAAACAAAGTTATCTTTGTAATATCTGCTGGCGAAACCAACTCTTTAGACAAAGACGTCTTAAGGAATGTGTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752-'43-49,'43-46,54-49=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.018 A=0.131 C2=0.096
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0009223=VWA=WD(100=80.0)
Main Skipping Isoform:
ENST00000312481fB12815
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:
TCAATCAGTACCCACCACCGA
R:
CCTAAGGTGGAGGTCAGTGGA
Band lengths:
293-505
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains