HsaEX6058436 @ hg38
Exon Skipping
Gene
ENSG00000172752 | COL6A5
Description
collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674]
Coordinates
chr3:130455455-130470967:+
Coord C1 exon
chr3:130455455-130455666
Coord A exon
chr3:130468795-130469481
Coord C2 exon
chr3:130470871-130470967
Length
687 bp
Sequences
Splice sites
3' ss Seq
CTTGAGTTATTCTGTTGCAGGAC
3' ss Score
6.82
5' ss Seq
GACGTAAGT
5' ss Score
10.93
Exon sequences
Seq C1 exon
ATTTGTTACTGAGCTACAAGAGGATTTTTTGGGAGGTAATGGCTTCATTGGCCAAGAATTAAATTCTGGGAGAGAATCACCTTTTGTAAAGACGGAAGACAATGGAAGTGACTATTTGGTTTACCTTCCAAGCCAAATGTTTGAGCCACAAAAATTAATGATCAATTATGAAAAAGATCAAAAATCTGCAGAAATTGCAAGTCTCACTTCTG
Seq A exon
GACATGAAAATTATGGCAGAAAAGAAGAACCAGATCATACTTATGAACCTGGAGATGTCTCTCTTCAAGAATATTACATGGATGTGGCTTTCCTCATAGATGCTTCCCAAAGAGTAGGAAGTGATGAGTTTAAGGAAGTAAAAGCTTTTATAACCTCAGTGCTTGATTACTTTCACATTGCCCCCACTCCACTGACCTCCACCTTAGGAGACAGGGTTGCTGTCCTGAGCTACTCTCCTCCAGGCTATATGCCTAACACTGAAGAATGCCCTGTCTACCTGGAATTTGATTTGGTTACTTATAACAGTATACACCAAATGAAACATCATCTCCAAGACTCTCAACAGCTCAATGGAGATGTTTTTATTGGCCATGCCTTGCAGTGGACAATTGACAATGTCTTTGTAGGAACCCCCAATCTGAGGAAAAACAAAGTTATCTTTGTAATATCTGCTGGCGAAACCAACTCTTTAGACAAAGACGTCTTAAGGAATGTGTCTCTGAGAGCCAAGTGTCAAGGCTACTCCATATTTGTGTTTTCCTTTGGCCCTAAACACAATGACAAAGAATTAGAAGAATTAGCCAGCCACCCTCTGGATCATCACTTGGTCCAACTTGGCCGAACCCACAAGCCAGATTGGAACTATATCATCAAGTTTGTCAAGCCATTTGTCCATTTAATCAGAC
Seq C2 exon
GTGCCATCAACAAATATCCCACCGAAGATATGAAAGCCACATGTGTTAACATGACCTCTCCCAACCCAGAGAACGGTGGCACAGAAAACACTGTATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752-'54-51,'54-49,55-51=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.131 A=0.096 C2=0.509
Domain overlap (PFAM):
C1:
NO
A:
PF0009223=VWA=WD(100=80.0)
C2:
NO
Main Skipping Isoform:
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:
TTTGTTACTGAGCTACAAGAGGA
R:
AGTGTTTTCTGTGCCACCGTT
Band lengths:
303-990
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains