HsaEX6052882 @ hg38
Exon Skipping
Gene
ENSG00000188153 | COL4A5
Description
collagen type IV alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:2207]
Coordinates
chrX:108559064-108568673:+
Coord C1 exon
chrX:108559064-108559153
Coord A exon
chrX:108563882-108563926
Coord C2 exon
chrX:108568629-108568673
Length
45 bp
Sequences
Splice sites
3' ss Seq
AAAAATATTGCATTTTTCAGGGT
3' ss Score
6.93
5' ss Seq
AGAGTAAGT
5' ss Score
9.35
Exon sequences
Seq C1 exon
GGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAG
Seq A exon
GGTGATGATGGAATTCCAGGGCCACCAGGACCAAAAGGAATCAGA
Seq C2 exon
GGTCCTCCTGGACTTCCTGGATTTCCAGGGACACCAGGTCTTCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153-'7-13,'7-11,9-13=AN
Average complexity
A_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=FE(50.0=100),PF0139113=Collagen=PU(21.2=56.7)
A:
PF0139113=Collagen=FE(16.3=100),PF0139113=Collagen=PU(13.1=73.3)
C2:
PF0139113=Collagen=FE(13.2=100),PF0139113=Collagen=PU(12.1=53.3)
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:
GGAGAGAGAGGGTTTCCAGGT
R:
AGGAAGACCTGGTGTCCCTG
Band lengths:
135-180
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains