HsaEX6052825 @ hg38
Exon Skipping
Gene
ENSG00000197565 | COL4A6
Description
collagen type IV alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:2208]
Coordinates
chrX:108214112-108221374:-
Coord C1 exon
chrX:108221240-108221374
Coord A exon
chrX:108219698-108219742
Coord C2 exon
chrX:108214112-108214228
Length
45 bp
Sequences
Splice sites
3' ss Seq
CTCCCTACTCCTTTTTTTAGGGT
3' ss Score
10.76
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
GGACGACCTGGACCAATTGGAATTCAAGGCCCAACAGGTCCTCAAGGATTCACTGGCTCTACTGGTTTATCGGGATTGAAAGGAGAAAGGGGTTTCCCAGGCCTTCTGGGACCTTATGGACCAAAAGGAGATAAG
Seq A exon
GGTCCCATGGGAGTTCCTGGCTTTCTTGGCATCAATGGGATTCCG
Seq C2 exon
GGCCACCCTGGACAACCAGGCCCCAGAGGCCCACCTGGTCTGGATGGCTGTAATGGAACTCAAGGAGCTGTTGGATTTCCAGGCCCTGATGGCTATCCTGGGCTTCTCGGACCACCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565-'14-17,'14-16,15-17=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.978 A=0.933 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(71.0=100)
A:
PF0139113=Collagen=PD(17.7=73.3),PF0139113=Collagen=PU(13.1=53.3)
C2:
PF0139113=Collagen=FE(62.3=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCTTCTGGGACCTTATGGA
R:
AGAAGCCCAGGATAGCCATCA
Band lengths:
143-188
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains