Special

HsaEX0016592 @ hg19

Exon Skipping

Gene
ENSG00000197565 | COL4A6
Description
collagen, type IV, alpha 6 [Source:HGNC Symbol;Acc:2208]
Coordinates
chrX:107417670-107419027:-
Coord C1 exon
chrX:107418884-107419027
Coord A exon
chrX:107418320-107418445
Coord C2 exon
chrX:107417670-107417851
Length
126 bp
Sequences
Splice sites
3' ss Seq
GCTGATCTCCATCCCTGCAGGAG
3' ss Score
8.78
5' ss Seq
GAGGTGCTG
5' ss Score
2.64
Exon sequences
Seq C1 exon
GAGAGAAGGGGTCTGTTGGATTCGTAGGTTTTCCAGGAATACCAGGTCTGCCTGGTATTCCTGGAACAAGAGGATTAAAAGGAATTCCAGGATCAACTGGAAAAATGGGACCATCTGGACGTGCTGGTACTCCTGGTGAAAAGG
Seq A exon
GAGACAGAGGCAATCCGGGGCCAGTCGGAATACCTAGTCCAAGACGTCCAATGTCAAACCTTTGGCTCAAAGGAGACAAAGGCTCTCAAGGCTCAGCCGGATCCAATGGATTTCCTGGGCCAAGAG
Seq C2 exon
GTGACAAAGGAGAGGCTGGTCGACCTGGACCACCAGGCCTACCTGGAGCTCCTGGCCTCCCAGGCATTATCAAAGGAGTTAGTGGAAAGCCAGGGCCCCCTGGCTTCATGGGAATCCGGGGCTTACCTGGCCTGAAGGGGTCCTCTGGGATCACAGGTTTCCCAGGAATGCCAGGAGAAAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565_CASSETTE3
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(38.1=49.0),PF0139113=Collagen=PU(72.6=91.8)
A:
PF0139113=Collagen=PD(23.5=37.2),PF0139113=Collagen=PU(32.8=46.5)
C2:
PF0139113=Collagen=PD(65.6=65.6),PF0139113=Collagen=PU(54.5=59.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCAGGAATACCAGGTCTGCC
R:
GACCCCTTCAGGCCAGGTAAG
Band lengths:
255-381
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