Special

HsaEX0016370 @ hg19

Exon Skipping

Gene
ENSG00000082293 | COL19A1
Description
collagen, type XIX, alpha 1 [Source:HGNC Symbol;Acc:2196]
Coordinates
chr6:70642675-70647992:+
Coord C1 exon
chr6:70642675-70642755
Coord A exon
chr6:70646677-70646802
Coord C2 exon
chr6:70647930-70647992
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_CASSETTE2
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=0.238 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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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