HsaEX6058477 @ hg38
Exon Skipping
Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130606931-130610711:+
Coord C1 exon
chr3:130606931-130606966
Coord A exon
chr3:130608902-130608964
Coord C2 exon
chr3:130610649-130610711
Length
63 bp
Sequences
Splice sites
3' ss Seq
TTGATTCTTTCTCGCCACAGGGA
3' ss Score
9.9
5' ss Seq
CAGGTACAT
5' ss Score
7.79
Exon sequences
Seq C1 exon
GCAGCTCATGGCAGAAGGGGACATACAGGCCCACAG
Seq A exon
GGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAG
Seq C2 exon
GGCCCAAGAGGAGAGGCTGGTGTGAAAGGAGAAAAAGGAGGTGTGGGAAGTAAAGGTCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384-'20-34,'20-26,26-34=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(12.2=100),PF0139113=Collagen=FE(15.3=100)
A:
PF0139113=Collagen=PD(17.8=76.2),PF0139113=Collagen=FE(27.8=100),PF0139113=Collagen=PU(20.3=66.7)
C2:
PF0139113=Collagen=FE(27.8=100),PF0139113=Collagen=FE(29.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTGGAAGAAAAGGAGAAAAGGG
R:
CTCGAGGAGTATCTTTGTGGCG
Band lengths:
132-195
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains