HsaEX0016513 @ hg38
Exon Skipping
Gene
ENSG00000172752 | COL6A5
Description
collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674]
Coordinates
chr3:130470871-130484844:+
Coord C1 exon
chr3:130470871-130470967
Coord A exon
chr3:130471682-130471926
Coord C2 exon
chr3:130484035-130484844
Length
245 bp
Sequences
Splice sites
3' ss Seq
TCTCTTCTCTATTACCTCAGACT
3' ss Score
7.59
5' ss Seq
AAGGTAATC
5' ss Score
7.46
Exon sequences
Seq C1 exon
GTGCCATCAACAAATATCCCACCGAAGATATGAAAGCCACATGTGTTAACATGACCTCTCCCAACCCAGAGAACGGTGGCACAGAAAACACTGTATT
Seq A exon
ACTTCTTCCTGGGATATATGAAATAAAGACAGAAAATGGTGATCTGTTTGATGAATTTGATTCCCAGGCACAACATCTCCTTGTATTAGGGAACAATCATAGTAGTGGTTCTGAGACAGCTACTGATTTGATGCAGAAGTTATATCTGCTCTTTTCAACTGAGAAACTGGCAATGAAAGACAAGGAAAAAGCACATTTAGAAGAAATTTCAGCTCTAGTGGTTGATAAACAGCAAGAAAAAGAAG
Seq C2 exon
ATGGTGAAGATACAAGGTCATCATAGGAGAAAAGAAGATAGCTCCACTGACATGTATAATCCCATGTGGTTCTAACCAGAATGTATAATCATCTGTTAGAGGTACTGTGGTAAATGACAGGGACTTTTCACAAAAACAATTGGCTAATAGCATGCTAAATTTGTTCTCCATCTCAAATCTTGAGGAGAAGAATTTTCGGAGTGAAGACATCAGTAAGAAGACCTGACAAACCAGGAATGATTTCATTTCTCCTGAGAACTGGGGAAACCGACCTATAAGAGTTAACTTTTCTTTGAAAGCTCTGCACAGTTCAGGCATCAATTTTGATGATGTATCTGCCTGTAAAAGATTGTCATTATTTTCAACACATCTGTATCTCAGATTGGACTCCTCTAAAAGCATTTGGAATTGGAATTTCCTAGGAATATCTTCTACTAATTCTTAAAACTGGAAAGCCATGCCCATGTCATCGGTTCTGGGGTGACCCTAACATTTCATCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752_MULTIEX1-1/2=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.509 A=0.193 C2=0.786
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
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:
AACGGTGGCACAGAAAACACT
R:
GTCGGTTTCCCCAGTTCTCAG
Band lengths:
298-543
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development