HsaEX0016592 @ hg38
Exon Skipping
Gene
ENSG00000197565 | COL4A6
Description
collagen type IV alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:2208]
Coordinates
chrX:108174440-108175797:-
Coord C1 exon
chrX:108175654-108175797
Coord A exon
chrX:108175090-108175215
Coord C2 exon
chrX:108174440-108174621
Length
126 bp
Sequences
Splice sites
3' ss Seq
GCTGATCTCCATCCCTGCAGGAG
3' ss Score
8.78
5' ss Seq
GAGGTGCTG
5' ss Score
2.64
Exon sequences
Seq C1 exon
GAGAGAAGGGGTCTGTTGGATTCGTAGGTTTTCCAGGAATACCAGGTCTGCCTGGTATTCCTGGAACAAGAGGATTAAAAGGAATTCCAGGATCAACTGGAAAAATGGGACCATCTGGACGTGCTGGTACTCCTGGTGAAAAGG
Seq A exon
GAGACAGAGGCAATCCGGGGCCAGTCGGAATACCTAGTCCAAGACGTCCAATGTCAAACCTTTGGCTCAAAGGAGACAAAGGCTCTCAAGGCTCAGCCGGATCCAATGGATTTCCTGGGCCAAGAG
Seq C2 exon
GTGACAAAGGAGAGGCTGGTCGACCTGGACCACCAGGCCTACCTGGAGCTCCTGGCCTCCCAGGCATTATCAAAGGAGTTAGTGGAAAGCCAGGGCCCCCTGGCTTCATGGGAATCCGGGGCTTACCTGGCCTGAAGGGGTCCTCTGGGATCACAGGTTTCCCAGGAATGCCAGGAGAAAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565_CASSETTE2
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(38.1=49.0),PF0139113=Collagen=PU(72.6=91.8)
A:
PF0139113=Collagen=PD(23.5=37.2),PF0139113=Collagen=PU(32.8=46.5)
C2:
PF0139113=Collagen=PD(65.6=65.6),PF0139113=Collagen=PU(54.5=59.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCAGGAATACCAGGTCTGCC
R:
GACCCCTTCAGGCCAGGTAAG
Band lengths:
255-381
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