HsaEX0016307 @ hg38
Exon Skipping
Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69947307-69957042:+
Coord C1 exon
chr10:69947307-69947342
Coord A exon
chr10:69952882-69952968
Coord C2 exon
chr10:69957004-69957042
Length
87 bp
Sequences
Splice sites
3' ss Seq
GACTAAACCATTATTTACAGGGG
3' ss Score
3.82
5' ss Seq
TTGGTATGT
5' ss Score
7.12
Exon sequences
Seq C1 exon
GGTTTACATGGACCACCCGGGGACAAGGGAAACCGG
Seq A exon
GGGGAGAGGGGGAAGAAAGGCTCTAGAGGGCCTAAAGGGGATAAGGGAGACCAAGGAGCGCCTGGATTAGATGCCCCCTGCCCATTG
Seq C2 exon
GGCGAAGATGGCTTACCAGTCCAAGGCTGCTGGAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467_MULTIEX2-1/2=C1-C2
Average complexity
ME(1-2[98=100])
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(13.8=100),PF0139113=Collagen=FE(15.7=100)
A:
PF0139113=Collagen=PD(1.2=3.4),PF0139113=Collagen=FE(40.0=100)
C2:
PF0139113=Collagen=PD(10.0=53.8)
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:
GTTTACATGGACCACCCGGG
R:
CTTGTTCCAGCAGCCTTGGAC
Band lengths:
74-161
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