HsaEX0016591 @ hg38
Exon Skipping
Gene
ENSG00000197565 | COL4A6
Description
collagen type IV alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:2208]
Coordinates
chrX:108162892-108165038:-
Coord C1 exon
chrX:108164877-108165038
Coord A exon
chrX:108164600-108164698
Coord C2 exon
chrX:108162892-108163038
Length
99 bp
Sequences
Splice sites
3' ss Seq
CTTCCTTTGGGCTTTGTCAGGCA
3' ss Score
5.74
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
Exon sequences
Seq C1 exon
GCCGCCCAGGCCCCGCTGGACCCCCAGGTCCCCCTGGGCCATCCTCGAATCAAGGCGACACCGGAGACCCTGGCTTCCCTGGAATTCCTGGACCTAAAGGGCCTAAGGGAGACCAAGGAATTCCAGGTTTTTCTGGCCTCCCTGGAGAGCTAGGACTGAAAG
Seq A exon
GCATGAGAGGTGAGCCTGGCTTCATGGGGACTCCAGGCAAGGTTGGGCCACCTGGAGACCCAGGATTTCCCGGAATGAAGGGGAAGGCAGGGCCAAGAG
Seq C2 exon
GCTCTTCTGGCCTCCAAGGTGATCCTGGACAAACACCAACTGCAGAAGCTGTCCAGGTTCCTCCTGGACCCTTGGGTCTACCAGGGATCGATGGCATCCCTGGCCTCACTGGGGACCCTGGGGCTCAAGGCCCTGTAGGCCTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565_CASSETTE1
Average complexity
S
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=PD(71.0=80.0),PF0139113=Collagen=PU(23.8=27.3)
A:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=FE(52.4=100)
C2:
PF0139113=Collagen=PD(22.2=28.0),PF0139113=Collagen=PU(53.3=64.0),PF0139113=Collagen=PU(0.1=0.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATCCTCGAATCAAGGCGAC
R:
GCAGTTGGTGTTTGTCCAGGA
Band lengths:
167-266
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