Special

HsaEX0016425 @ hg19

Exon Skipping

Gene
ENSG00000124749 | COL21A1
Description
collagen, type XXI, alpha 1 [Source:HGNC Symbol;Acc:17025]
Coordinates
chr6:55942327-55966323:-
Coord C1 exon
chr6:55966270-55966323
Coord A exon
chr6:55942891-55942986
Coord C2 exon
chr6:55942327-55942371
Length
96 bp
Sequences
Splice sites
3' ss Seq
TTTTCTGAATGTTGCTACAGACA
3' ss Score
6.09
5' ss Seq
TCAGTAAGG
5' ss Score
5.2
Exon sequences
Seq C1 exon
GGAGAAGCAGGATCCCCTGGTGCTCCGGGGCAGGATGGAACACGGGGAGAGCCT
Seq A exon
ACATGTGCATATGAGTTCAGCCACGTGAAAGAGTGACCTGTACTTCTTTATGTCTCTTCACAAACTGTGGTCTTCATATTCTTCATGATTGCATCA
Seq C2 exon
GGAATCCCAGGATTTCCTGGAAACCGAGGATTAATGGGCCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124749_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.919 C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(11.6=44.4),PF0139113=Collagen=FE(20.2=100)
A:
PF0139113=Collagen=PD(3.3=16.7)
C2:
PF0139113=Collagen=FE(16.7=100),PF0139113=Collagen=PU(2.5=13.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
GGAGAAGCAGGATCCCCT
R:
TGGCCCATTAATCCTCGGTTT
Band lengths:
95-191
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