HsaEX6048067 @ hg38
Exon Skipping
Gene
ENSG00000082293 | COL19A1
Description
collagen type XIX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2196]
Coordinates
chr6:69938038-69962870:+
Coord C1 exon
chr6:69938038-69938100
Coord A exon
chr6:69959996-69960040
Coord C2 exon
chr6:69962826-69962870
Length
45 bp
Sequences
Splice sites
3' ss Seq
ATTCTGTGTACTTCTTTTAGGGT
3' ss Score
9.52
5' ss Seq
AAGGTAAAG
5' ss Score
9.06
Exon sequences
Seq C1 exon
GGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCG
Seq A exon
GGTGAAAATGGTTTACATGGTGCTCCAGGATTCCCTGGTCAAAAG
Seq C2 exon
GGAGAGCAAGGTTTTGAAGGCAGCAAAGGAGAAACTGGTGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000082293-'16-18,'16-17,17-18=AN
Average complexity
A_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(32.3=100)
A:
PF0139113=Collagen=FE(22.6=100)
C2:
PF0139113=Collagen=FE(22.6=100),PF0139113=Collagen=PU(16.9=73.3)
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
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGAAGCAGGATTACCAGGAG
R:
CTTTTCACCAGTTTCTCCTTTGCTG
Band lengths:
108-153
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains