HsaEX0016372 @ hg38
Exon Skipping
Gene
ENSG00000082293 | COL19A1
Description
collagen type XIX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2196]
Coordinates
chr6:70121880-70137747:+
Coord C1 exon
chr6:70121880-70121942
Coord A exon
chr6:70130182-70130223
Coord C2 exon
chr6:70137685-70137747
Length
42 bp
Sequences
Splice sites
3' ss Seq
AAATTGTTTTTCACCCCTAGGGA
3' ss Score
9.59
5' ss Seq
AAGGTAATC
5' ss Score
7.46
Exon sequences
Seq C1 exon
GGACCTCCTGGAATACAAGGAATACACCAAACTCTTGGTGGATATTATAACAAGGATAACAAG
Seq A exon
GGAAATGATGAACATGAAGCTGGAGGCCTGAAAGGAGACAAG
Seq C2 exon
GGTGAAACTGGACTACCAGGATTTCCAGGGTCTGTTGGCCCTAAAGGACAAAAAGGAGAACCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000082293_CASSETTE2
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(22.2=66.7)
A:
PF0139113=Collagen=PU(11.0=64.3)
C2:
PF0139113=Collagen=FE(24.4=100)
Main Skipping Isoform:
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:
GGACCTCCTGGAATACAAGGA
R:
GTTCTCCTTTTTGTCCTTTAGGGC
Band lengths:
124-166
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