Special

HsaEX1009475 @ hg38

Exon Skipping

Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130641652-130643023:+
Coord C1 exon
chr3:130641652-130641714
Coord A exon
chr3:130642832-130642867
Coord C2 exon
chr3:130642987-130643023
Length
36 bp
Sequences
Splice sites
3' ss Seq
TGTTTTGTTTGTTTTCCTAGGGT
3' ss Score
10.08
5' ss Seq
TCTGTACGT
5' ss Score
4.47
Exon sequences
Seq C1 exon
ATATCTGCTGGGCTTCCAGGAGAGATGGGATCCCCTGGGGAACCAGGACCTCCTGGACGTAAG
Seq A exon
GGTGTGAAAGGAGCCAAAGGCTTGGCTTCATTTTCT
Seq C2 exon
ACATGTGAGCTCATTCAGTATGTGCGAGACCGCAGTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384-'35-45,'35-44,36-45
Average complexity
S
Mappability confidence:
100%=100=75%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.500 C2=0.385
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTTCCAGGAGAGATGGGAT
R:
CGGTCTCGCACATACTGAATGA
Band lengths:
85-121
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains