HsaEX0016314 @ hg38
Exon Skipping
Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69937635-69944178:+
Coord C1 exon
chr10:69937635-69937715
Coord A exon
chr10:69940988-69941023
Coord C2 exon
chr10:69944125-69944178
Length
36 bp
Sequences
Splice sites
3' ss Seq
AAACTGTGCCCTTCGTCCAGGGA
3' ss Score
6.14
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
GGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCC
Seq A exon
GGAGCTTCAGGTTTGGACGGCAGGCCTGGGCCACCG
Seq C2 exon
GGTACTCCAGGACCAATTGGAGTTCCAGGCCCAGCGGGACCAAAGGGCGAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467_CASSETTE1
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(43.3=100),PF0139113=Collagen=PU(21.2=63.0)
A:
PF0139113=Collagen=PD(15.0=75.0),PF0139113=Collagen=FE(13.8=100)
C2:
PF0139113=Collagen=PD(21.2=77.8),PF0139113=Collagen=FE(17.5=100)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGGAAGCAGGACTAGATGGA
R:
GGCCTGGAACTCCAATTGGTC
Band lengths:
112-148
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