HsaEX6058470 @ hg38
Exon Skipping
Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130635699-130649562:+
Coord C1 exon
chr3:130635699-130635761
Coord A exon
chr3:130641652-130641714
Coord C2 exon
chr3:130649069-130649562
Length
63 bp
Sequences
Splice sites
3' ss Seq
AAAATAAATTCTCCTTTGAGATA
3' ss Score
-1.51
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
GGTGAGATTGGGGACCCTGGTGGTCCAGGAGAGACTGGGCTGAAGGGAGCTAGAGGCAAAATG
Seq A exon
ATATCTGCTGGGCTTCCAGGAGAGATGGGATCCCCTGGGGAACCAGGACCTCCTGGACGTAAG
Seq C2 exon
GAAAACCGGAATGCCCAGTGCACCCAACCGAGTTGGTGTTTGCCCTGGACCACTCCCGGGATGTCACTGAGCAGGAATTTGAGCGGATGAAGGAGATGATGGCTTTCCTGGTGAGAGACATTAAGGTCCGGGAGAACAGCTGCCCCGTGGGAGCGCACATCGCCATCCTCTCCTATAACTCCCACGCCAGGCACCTTGTGCGCTTCTCAGACGCCTACAAGAAGAGTCAACTTCTCAGAGAAATTGAAACTATTCCTTATGAGAGATCCTCTGCCAGCAGGGAGATTGGCAGAGCAATGCGGTTTATTTCCAGGAATGTCTTCAAGCGGACGCTTCCGGGGGCACACACGAGAAAAATCGCCACATTTTTCAGCAGCGGTCAGTCCGCGGATGCCCACTCCATCACCACGGCTGCCATGGAGTTCGGCGCGCTTGAAATCATTCCCGTGGTGATCACTTTCAGCAACGTGCCCTCGGTCAGGCGCGCATTTGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384_MULTIEX1-1/7=C1-5
Average complexity
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=0.079
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0009223=VWA=PU(94.5=93.3)
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:
GAGAGACTGGGCTGAAGGGAG
R:
GCCATCATCTCCTTCATCCGC
Band lengths:
138-201
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains