HsaEX0016471 @ hg38
Exon Skipping
Gene
ENSG00000188517 | COL25A1
Description
collagen type XXV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:18603]
Coordinates
chr4:108832380-108841721:-
Coord C1 exon
chr4:108841695-108841721
Coord A exon
chr4:108834355-108834390
Coord C2 exon
chr4:108832380-108832433
Length
36 bp
Sequences
Splice sites
3' ss Seq
CTACCAACCAAATCACACAGGGA
3' ss Score
3.69
5' ss Seq
CGGGTGAGT
5' ss Score
9.89
Exon sequences
Seq C1 exon
GGACCTCATGGACTTCCTGGACCAAAG
Seq A exon
GGAGCATCTGGCTTAGACGGAAAGCCAGGATCCCGG
Seq C2 exon
GGTACAGATGGTCCTATGGGACCCCATGGCCCTGCAGGTCCCAAAGGAGAAAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188517_MULTIEX2-3/10=C1-4
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.807 A=0.316 C2=0.808
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(10.3=100),PF0139113=Collagen=FE(11.3=100)
A:
PF0139113=Collagen=FE(15.5=100),PF0139113=Collagen=PU(7.8=41.7)
C2:
PF0139113=Collagen=FE(21.8=100),PF0139113=Collagen=PU(25.8=94.4)
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGACCTCATGGACTTCCTGGA
R:
CTTTCTCCTTTGGGACCTGCA
Band lengths:
80-116
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