HsaEX0016599 @ hg19
Exon Skipping
Gene
ENSG00000197565 | COL4A6
Description
collagen, type IV, alpha 6 [Source:HGNC Symbol;Acc:2208]
Coordinates
chrX:107412725-107413946:-
Coord C1 exon
chrX:107413839-107413946
Coord A exon
chrX:107413175-107413246
Coord C2 exon
chrX:107412725-107412850
Length
72 bp
Sequences
Splice sites
3' ss Seq
TTGACATTCTCTCCCCTCAGGCT
3' ss Score
10.85
5' ss Seq
CAGGTTAGG
5' ss Score
6.25
Exon sequences
Seq C1 exon
GATTTCCAGGAGTTGCCGGCATGAGAGGAGAACCAGGACTTCCAGGTTCTTCTGGTCACCAAGGGGCAATTGGGCCTCTAGGATCCCCCGGATTAATAGGACCCAAAG
Seq A exon
GCTTCCCTGGATTTCCTGGTTTACATGGACTGAATGGGCTTCCGGGCACCAAGGGTACCCATGGCACTCCAG
Seq C2 exon
GACCTAGTATCACCGGTGTGCCTGGGCCTGCTGGTCTCCCTGGACCCAAAGGAGAAAAAGGATATCCAGGAATTGGCATCGGAGCTCCAGGGAAGCCGGGCCTGAGAGGGCAAAAAGGTGATCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565_MULTIEX1-1/3=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(10.0=16.2),PF0139113=Collagen=PU(55.0=89.2)
A:
PF0139113=Collagen=FE(40.0=100)
C2:
PF0139113=Collagen=PD(31.2=58.1),PF0139113=Collagen=PU(65.0=90.7)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCATGAGAGGAGAACCAGGA
R:
GAGCTCCGATGCCAATTCCTG
Band lengths:
178-250
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)