HsaEX0016371 @ hg38
Exon Skipping
Gene
ENSG00000082293 | COL19A1
Description
collagen type XIX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2196]
Coordinates
chr6:69962826-70034298:+
Coord C1 exon
chr6:69962826-69962870
Coord A exon
chr6:70023627-70023680
Coord C2 exon
chr6:70034245-70034298
Length
54 bp
Sequences
Splice sites
3' ss Seq
TATAAATTGTTTCTTTTTAGGGT
3' ss Score
11.07
5' ss Seq
AATGTAAGC
5' ss Score
6.12
Exon sequences
Seq C1 exon
GGAGAGCAAGGTTTTGAAGGCAGCAAAGGAGAAACTGGTGAAAAG
Seq A exon
GGTGAACAAGGAGAAAAAGGAGATCCAGCTCTGGCTGGCCTTAATGGAGAAAAT
Seq C2 exon
GGTTTGAAAGGTGACTTGGGTCCTCATGGTCCACCTGGCCCAAAAGGAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000082293_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(22.6=100),PF0139113=Collagen=PU(16.9=73.3)
A:
PF0139113=Collagen=PD(11.3=38.9),PF0139113=Collagen=FE(26.2=100)
C2:
PF0139113=Collagen=FE(26.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCAAGGTTTTGAAGGCAGCA
R:
TTTCTCCTTTTGGGCCAGGTG
Band lengths:
93-147
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