HsaEX6058439 @ hg38
Exon Skipping
Gene
ENSG00000172752 | COL6A5
Description
collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674]
Coordinates
chr3:130439522-130443566:+
Coord C1 exon
chr3:130439522-130439615
Coord A exon
chr3:130440166-130440825
Coord C2 exon
chr3:130443476-130443566
Length
660 bp
Sequences
Splice sites
3' ss Seq
GTCTCTCTGTGTGTTTTCAGATA
3' ss Score
11.85
5' ss Seq
GGCGTAAGT
5' ss Score
9.39
Exon sequences
Seq C1 exon
TTTGACAACACTGGAACATTTCAGGTGATTCCAGTTCCTCCAAATGGGGAAAATCAAACATTAGAAAGACTTCGGCGCTGTGCACTTTGCTATG
Seq A exon
ATAAATGTTTTCCAAATGCTTGCATTCGAGAGGCTTTCTTACCTGAAGATTCATACATGGATGTAGTCTTCCTCATAGACAATTCTCGGAATATAGCAAAGGATGAGTTTAAGGCTGTGAAAGCCTTGGTGAGCTCAGTGATTGACAACTTCAACATTGCTTCAGACCCTTTAATCTCAGACTCTGGTGATAGGATTGCTTTGTTGAGCTATTCTCCTTGGGAAAGTTCCAGGAGAAAGATGGGTACAGTAAAAACAGAGTTTGATTTCATCACTTATGACAACCAACTCCTAATGAAGAATCACATCCAGACTTCCTTCCAACAGCTAAATGGAGAAGCAACAATTGGTCGTGCCCTACTGTGGACCACTGAAAATCTTTTTCCAGAAACACCCTATCTAAGAAAACACAAGGTCATCTTTGTGGTCTCAGCTGGAGAAAATTATGAGAGAAAAGAATTTGTAAAAATGATGGCTTTGAGGGCTAAGTGTCAAGGCTACGTCATATTTGTGATTTCTCTGGGCTCTACACGTAAGGATGACATGGAGGAGTTAGCCAGCTACCCACTTGATCAACACCTGATACAGCTTGGGAGAATACATAAACCAGATCTGAATTATATTGCGAAGTTCTTAAAGCCATTTTTATACTCGGTCAGGC
Seq C2 exon
GGGGATTCAATCAGTACCCACCACCGATGCTTGAGGATGCCTGTAGACTCATCAATTTAGGAGGAGAGAATATTCAAAATGATGGTTTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752-'41-43,'41-41,42-43=AN
Average complexity
A_S
Mappability confidence:
88%=75=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.062 A=0.000 C2=0.018
Domain overlap (PFAM):
C1:
PF0009223=VWA=PD(3.1=15.6)
A:
PF0009223=VWA=WD(100=81.0)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains