HsaEX0016575 @ hg38
Exon Skipping
Gene
ENSG00000188153 | COL4A5
Description
collagen type IV alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:2207]
Coordinates
chrX:108602964-108615024:+
Coord C1 exon
chrX:108602964-108603061
Coord A exon
chrX:108606742-108606892
Coord C2 exon
chrX:108614911-108615024
Length
151 bp
Sequences
Splice sites
3' ss Seq
TTGTCATGTGTATGCTCAAGGGT
3' ss Score
3.87
5' ss Seq
AAGGTATGG
5' ss Score
9.26
Exon sequences
Seq C1 exon
GCTTTCCTGGAATTCCAGGACCTCCAGGAGCACCTGGGACACCTGGAAGAATTGGTCTAGAAGGCCCTCCTGGGCCACCCGGCTTTCCAGGACCAAAG
Seq A exon
GGTGAACCAGGATTTGCATTACCTGGGCCACCTGGGCCACCAGGACTTCCAGGTTTCAAAGGAGCACTTGGTCCAAAAGGTGATCGTGGTTTCCCAGGACCTCCGGGTCCTCCAGGACGCACTGGCTTAGATGGGCTCCCTGGACCAAAAG
Seq C2 exon
GTGATGTTGGACCAAATGGACAACCTGGACCAATGGGACCTCCTGGGCTGCCAGGAATAGGTGTTCAGGGACCACCAGGACCACCAGGGATTCCTGGGCCAATAGGTCAACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153-'43-55,'43-50,45-55
Average complexity
S
Mappability confidence:
91%=100=86%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(52.5=100)
A:
PF0139113=Collagen=PD(27.9=33.3),PF0139113=Collagen=PU(70.3=88.2),PF0139113=Collagen=PU(34.5=58.8)
C2:
PF0139113=Collagen=PD(29.2=48.7),PF0139113=Collagen=FE(62.3=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAATTCCAGGACCTCCAGG
R:
CAGGTTGACCTATTGGCCCAG
Band lengths:
205-356
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