HsaEX0016299 @ hg38
Exon Skipping
Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69872184-69880553:+
Coord C1 exon
chr10:69872184-69872210
Coord A exon
chr10:69875128-69875163
Coord C2 exon
chr10:69880503-69880553
Length
36 bp
Sequences
Splice sites
3' ss Seq
TCTGCCTCCTTCATCATCAGGGG
3' ss Score
8.93
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GGTCCCACTGGAAGACCCGGACTCCCA
Seq A exon
GGGGACAAAGGTGCCATTGGGATGCCTGGACGTGTG
Seq C2 exon
GGGTCCCCCGGAGACGCTGGGCTGTCCATCATTGGTCCCCGCGGCCCCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467-'6-15,'6-8,7-15
Average complexity
C3
Mappability confidence:
100%=75=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.933 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(17.4=100)
A:
PF0139113=Collagen=FE(23.9=100)
C2:
PF0139113=Collagen=PD(17.4=47.1),PF0139113=Collagen=PU(9.8=35.3)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCCACTGGAAGACCCGG
R:
TGGACAGCCCAGCGTCTC
Band lengths:
54-90
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development