HsaEX1009336 @ hg38
Exon Skipping
Gene
ENSG00000082293 | COL19A1
Description
collagen type XIX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2196]
Coordinates
chr6:69936785-69938100:+
Coord C1 exon
chr6:69936785-69936910
Coord A exon
chr6:69937126-69937178
Coord C2 exon
chr6:69938038-69938100
Length
53 bp
Sequences
Splice sites
3' ss Seq
CCATCTGAACTTCCTTCCAGGGT
3' ss Score
8.39
5' ss Seq
CAGGCAAGT
5' ss Score
3.1
Exon sequences
Seq C1 exon
TGCCCAGAGCAGGATGGCTTTGGAAATATTGCATCATCATGGGTAACTGCTCATGCCAGTAAAATGTCTTCATATCTGCCAGCAAAGCAGGAACTTAAAGACCAGTGCCAGTGCATTCCAAACAAG
Seq A exon
GGTGTGAACTAGAATGAATAGAAAAGTGAAGGGAGGAACTACCTGTACAACAG
Seq C2 exon
GGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000082293_MULTIEX1-2/2=1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.159 A=0.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PU(3.2=4.8)
A:
NO
C2:
PF0139113=Collagen=FE(32.3=100)
Main Inclusion Isoform:
ENST00000620364fB12739
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
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:
CATGGGTAACTGCTCATGCCA
R:
TTTATGCCCTTTCTGCCCAGG
Band lengths:
143-196
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains