HsaEX0016601 @ hg38
Exon Skipping
Gene
ENSG00000197565 | COL4A6
Description
collagen type IV alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:2208]
Coordinates
chrX:108164877-108169620:-
Coord C1 exon
chrX:108169495-108169620
Coord A exon
chrX:108165370-108165486
Coord C2 exon
chrX:108164877-108165038
Length
117 bp
Sequences
Splice sites
3' ss Seq
CTTTTATTTATTCTTTACAGGTT
3' ss Score
11.02
5' ss Seq
GAGGTAAAG
5' ss Score
8.27
Exon sequences
Seq C1 exon
GACCTAGTATCACCGGTGTGCCTGGGCCTGCTGGTCTCCCTGGACCCAAAGGAGAAAAAGGATATCCAGGAATTGGCATCGGAGCTCCAGGGAAGCCGGGCCTGAGAGGGCAAAAAGGTGATCGAG
Seq A exon
GTTTCCCAGGTCTCCAGGGCCCTGCTGGTCTCCCCGGTGCCCCAGGCATCTCCTTGCCCTCACTCATAGCAGGACAGCCTGGTGACCCCGGGCGACCAGGCCTAGATGGAGAACGAG
Seq C2 exon
GCCGCCCAGGCCCCGCTGGACCCCCAGGTCCCCCTGGGCCATCCTCGAATCAAGGCGACACCGGAGACCCTGGCTTCCCTGGAATTCCTGGACCTAAAGGGCCTAAGGGAGACCAAGGAATTCCAGGTTTTTCTGGCCTCCCTGGAGAGCTAGGACTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565_MULTIEX2-3/3=2-C2
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(31.2=58.1),PF0139113=Collagen=PU(65.0=90.7)
A:
PF0139113=Collagen=PD(33.3=50.0),PF0139113=Collagen=PU(27.4=42.5)
C2:
PF0139113=Collagen=PD(71.0=80.0),PF0139113=Collagen=PU(23.8=27.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCCTGGACCCAAAGGAGAA
R:
TCAGTCCTAGCTCTCCAGGGA
Band lengths:
250-367
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