HsaEX0016466 @ hg38
Exon Skipping
Gene
ENSG00000188517 | COL25A1
Description
collagen type XXV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:18603]
Coordinates
chr4:108940539-108974393:-
Coord C1 exon
chr4:108974367-108974393
Coord A exon
chr4:108941366-108941437
Coord C2 exon
chr4:108940539-108940646
Length
72 bp
Sequences
Splice sites
3' ss Seq
GACCTCAACTGACTGATCAGATG
3' ss Score
2.5
5' ss Seq
AAGGTAGTG
5' ss Score
5.56
Exon sequences
Seq C1 exon
GGAGAACAAGGTGATCAGGGACCTAGG
Seq A exon
ATGGTGTTTCCTAAAATCAATCATGGGTTTCTCTCTGCTGATCAGCAGCTCATTAAACGCCGCCTGATTAAG
Seq C2 exon
GGTGACCAAGGACAGGCAGGGCCTCCAGGACCCCCTGGCCCTCCAGGCCCAAGAGGGCCACCTGGGGACACAGGGAAAGATGGCCCCCGTGGAATGCCAGGAGTACCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188517_MULTIEX1-2/4=C1-3
Average complexity
ME(1-2[99=92])
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.994 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(16.7=100)
A:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=PU(1.8=4.2)
C2:
PF0139113=Collagen=FE(61.4=100),PF0139113=Collagen=PU(0.1=0.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGAACAAGGTGATCAGGGAC
R:
GGGTACTCCTGGCATTCCACG
Band lengths:
135-207
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