HsaEX0016563 @ hg38
Exon Skipping
Gene
ENSG00000188153 | COL4A5
Description
collagen type IV alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:2207]
Coordinates
chrX:108591561-108595601:+
Coord C1 exon
chrX:108591561-108591644
Coord A exon
chrX:108592831-108592874
Coord C2 exon
chrX:108595509-108595601
Length
44 bp
Sequences
Splice sites
3' ss Seq
AAAATATAGAACATTTTCAGGAC
3' ss Score
0.24
5' ss Seq
AAGGTAATC
5' ss Score
7.46
Exon sequences
Seq C1 exon
GTGATGAGATATGTGAACCAGGCCCTCCAGGCCCCCCAGGATCTCCAGGTGATAAAGGACTCCAAGGAGAACAAGGAGTGAAAG
Seq A exon
GACCCTGGAAGACTCTTGTGCTCCCTACTCAGTATCCCCCAAAG
Seq C2 exon
GTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.400 C2=0.878
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(3.4=6.9),PF0139113=Collagen=PU(50.0=89.7)
A:
PF0139113=Collagen=PD(3.4=13.3)
C2:
PF0139113=Collagen=PD(45.5=78.1),PF0139113=Collagen=PU(25.0=46.9)
Main Inclusion Isoform:
ENST00000328300fB1752
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATATGTGAACCAGGCCCTCCA
R:
TGGAGGCCCTGAAATACCAGT
Band lengths:
132-176
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