HsaEX0016511 @ hg38
Exon Skipping
Gene
ENSG00000172752 | COL6A5
Description
collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674]
Coordinates
chr3:130379418-130389134:+
Coord C1 exon
chr3:130379418-130380050
Coord A exon
chr3:130384804-130385364
Coord C2 exon
chr3:130388580-130389134
Length
561 bp
Sequences
Splice sites
3' ss Seq
AGAATGCACTTCTTTTTCAGGCT
3' ss Score
6.44
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
Exon sequences
Seq C1 exon
GAAGGAAAATTGCATGCGACTTGGACTGATGAGTTACAGCAATAGTGCCAAGACTATTTCTTTTCTTAAATCAAGCACAACCCAATCTGAATTTCAGCAGCAAATCAAGAATCTTTCTATCCAAGTTGGGAAATCCAATACAGGGGCTGCCATTGATCAGATGAGAAGAGACGGCTTCTCAGAGTCATATGGCAGCAGAAGAGCACAAGGAGTGCCTCAGATTGCAGTTCTGGTCACCCACAGACCATCAGATGATGAGGTGCATGATGCTGCGCTGAACCTTCGACTGGAGGATGTAAACGTGTTTGCCTTGAGCATCCAAGGGGCTAACAATACCCAGTTAGAAGAAATAGTGTCTTATCCTCCAGAACAGACAATTTCCACGCTGAAGTCCTATGCAGACTTAGAAACTTACAGTACAAAGTTCCTGAAAAAGCTCCAGAATGAAATATGGTCCCAAATTTCTACTTATGCTGAACAAAGGAATCTTGATAAAACTG
Seq A exon
GCTGTGTGGATACAAAAGAGGCTGATATCCACTTCCTCATTGATGGCTCAAGCAGCATCCAGGAGAAACAGTTTGAGCAAATCAAGAGATTTATGTTGGAAGTGACAGAAATGTTTAGCATTGGCCCAGACAAAGTCCGAGTTGGAGTTGTGCAGTATTCAGATGACACAGAAGTGGAATTTTATATCACTGACTATTCTAATGATATTGACTTAAGAAAGGCTATTTTTAACATTAAGCAACTAACTGGTGGAACTTATACTGGGAAAGCTCTGGATTACATACTGCAAATAATAAAAAATGGAATGAAGGATAGAATGAGCAAGGTTCCCTGTTACCTCATTGTGTTGACTGATGGGATGTCCACAGACAGAGTCGTGGAACCTGCTAAGAGACTAAGGGCTGAGCAAATCACTGTTCATGCAGTTGGCATTGGGGCAGCTAATAAAATAGAACTGCAAGAAATTGCTGGGAAAGAAGAAAGGGTTAGCTTTGGGCAGAACTTTGATGCTTTGAAAAGCATAAAAAATGAAGTCGTTCGTGAAATCTGCGCTGAAAAAG
Seq C2 exon
GATGTGAAGACATGAAGGCCGACATCATGTTTCTGGTGGACAGTTCTTGGAGTATAGGAAATGAAAATTTTAGGAAAATGAAAATCTTCATGAAAAACCTGTTAACTAAAATTCAAATTGGTGCAGACAAAACCCAGATTGGTGTTGTTCAGTTCAGTGATAAAACTAAGGAAGAGTTCCAGCTTAATAGATATTTTACACAGCAAGAAATTTCTGATGCAATAGATAGAATGTCTCTCATCAATGAAGGCACTTTAACTGGAAAGGCACTAAATTTTGTAGGTCAATACTTCACCCACTCCAAGGGGGCCCGTTTGGGGGCCAAAAAATTTCTCATCCTCATCACAGATGGAGTAGCGCAGGATGATGTGAGAGATCCTGCTAGAATTCTTCGGGGCAAAGATGTGACCATCTTCTCTGTAGGAGTATACAATGCCAATAGATCTCAGCTAGAAGAGATCAGTGGGGATAGCAGCCTAGTTTTTCATGTTGAGAACTTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752-'3-4,'3-3,4-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.047 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=WD(100=84.4)
A:
PF0009223=VWA=WD(100=92.6)
C2:
PF0009223=VWA=WD(100=91.9)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGGCAGCAGAAGAGCACAAG
R:
ACCAGAAACATGATGTCGGCC
Band lengths:
349-910
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development