HsaEX0016305 @ hg38
Exon Skipping
Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69922708-69925007:+
Coord C1 exon
chr10:69922708-69922794
Coord A exon
chr10:69923802-69923855
Coord C2 exon
chr10:69924963-69925007
Length
54 bp
Sequences
Splice sites
3' ss Seq
AACTCTCTCCTCTTCCCCAGGGA
3' ss Score
10.2
5' ss Seq
AAGGTACAG
5' ss Score
8.04
Exon sequences
Seq C1 exon
GGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAG
Seq A exon
GGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAG
Seq C2 exon
GGGGAGCGTGGAGCAGCTGGAGAACAGGGACCAGATGGCCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467-'37-41,'37-40,38-41
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=PD(19.4=44.8),PF0139113=Collagen=PU(29.5=62.1)
A:
PF0139113=Collagen=FE(28.3=100)
C2:
PF0139113=Collagen=FE(23.3=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGAGAAAGGCGATGCTGG
R:
CCATCTGGTCCCTGTTCTCCA
Band lengths:
125-179
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development