HsaEX0016596 @ hg38
Exon Skipping
Gene
ENSG00000197565 | COL4A6
Description
collagen type IV alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:2208]
Coordinates
chrX:108193628-108195126:-
Coord C1 exon
chrX:108195082-108195126
Coord A exon
chrX:108194534-108194587
Coord C2 exon
chrX:108193628-108193697
Length
54 bp
Sequences
Splice sites
3' ss Seq
TAACTATGTTTCTGTCACAGGGC
3' ss Score
9.69
5' ss Seq
GAGGTAATG
5' ss Score
8.73
Exon sequences
Seq C1 exon
GGTCCCATGGGTTCAGAAGGAGTCCAAGGCCCTCCAGGGCAACAG
Seq A exon
GGCAAGAAAGGGACCCTGGGATTTCCTGGGCTTAATGGATTCCAAGGAATTGAG
Seq C2 exon
GGTCAAAAGGGTGACATTGGCCTGCCAGGCCCAGATGTTTTCATCGATATAGATGGTGCTGTGATCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565_MULTIEX4-1/3=C1-2
Average complexity
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(21.2=100)
A:
PF0139113=Collagen=FE(25.8=100)
C2:
PF0139113=Collagen=PD(16.7=45.8),PF0139113=Collagen=PU(3.2=8.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTCCCATGGGTTCAGAAGGA
R:
CTGAGATCACAGCACCATCTAT
Band lengths:
115-169
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