HsaEX0016370 @ hg38
Exon Skipping
Gene
ENSG00000082293 | COL19A1
Description
collagen type XIX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2196]
Coordinates
chr6:69932783-69938100:+
Coord C1 exon
chr6:69932783-69932863
Coord A exon
chr6:69936785-69936910
Coord C2 exon
chr6:69938038-69938100
Length
126 bp
Sequences
Splice sites
3' ss Seq
AGCCTCTTTTTGGATTTTAGTGC
3' ss Score
6.17
5' ss Seq
AAGGTATGC
5' ss Score
9.55
Exon sequences
Seq C1 exon
ATTGAACTTCACCAACTTAAAATCTACTGCAGTGCAAACCTCATAGCTCAAGAAACATGTTGTGAAATATCAGATACTAAG
Seq A exon
TGCCCAGAGCAGGATGGCTTTGGAAATATTGCATCATCATGGGTAACTGCTCATGCCAGTAAAATGTCTTCATATCTGCCAGCAAAGCAGGAACTTAAAGACCAGTGCCAGTGCATTCCAAACAAG
Seq C2 exon
GGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000082293_MULTIEX1-1/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.159 C2=1.000
Domain overlap (PFAM):
C1:
PF133851=Laminin_G_3=PD(7.6=44.4)
A:
PF0139113=Collagen=PU(3.2=4.8)
C2:
PF0139113=Collagen=FE(32.3=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTCACCAACTTAAAATCTACTGCA
R:
CGGCTCTCCTTTATGCCCTTT
Band lengths:
139-265
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