HsaEX0016564 @ hg38
Exon Skipping
Gene
ENSG00000188153 | COL4A5
Description
collagen type IV alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:2207]
Coordinates
chrX:108595509-108597568:+
Coord C1 exon
chrX:108595509-108595601
Coord A exon
chrX:108596998-108597068
Coord C2 exon
chrX:108597377-108597568
Length
71 bp
Sequences
Splice sites
3' ss Seq
TTTGTGTGTGTGTGTGTTAGGAT
3' ss Score
9.7
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
Exon sequences
Seq C1 exon
GTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAG
Seq A exon
GATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCA
Seq C2 exon
GGCATTCCAGGAGCTCCAGGTGCTCCAGGCTTTCCTGGATCTAAAGGTGAACCTGGTGATATCCTCACTTTTCCAGGAATGAAGGGTGACAAAGGAGAGTTGGGTTCCCCTGGAGCTCCAGGGCTTCCTGGTTTACCTGGCACTCCTGGACAGGATGGATTGCCAGGGCTTCCTGGCCCGAAAGGAGAGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.878 A=0.875 C2=0.943
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(45.5=78.1),PF0139113=Collagen=PU(25.0=46.9)
A:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=FE(36.5=100)
C2:
PF0139113=Collagen=PD(33.3=31.2),PF0139113=Collagen=PU(83.7=64.1)
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:
TTTGCCAGGTCTCCCAGGTC
R:
TGTCCAGGAGTGCCAGGTAAA
Band lengths:
178-249
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development