Special

HsaEX0016575 @ hg19

Exon Skipping

Gene
ENSG00000188153 | COL4A5
Description
collagen, type IV, alpha 5 [Source:HGNC Symbol;Acc:2207]
Coordinates
chrX:107846194-107858254:+
Coord C1 exon
chrX:107846194-107846291
Coord A exon
chrX:107849972-107850122
Coord C2 exon
chrX:107858141-107858254
Length
151 bp
Sequences
Splice sites
3' ss Seq
TTGTCATGTGTATGCTCAAGGGT
3' ss Score
3.87
5' ss Seq
AAGGTATGG
5' ss Score
9.26
Exon sequences
Seq C1 exon
GCTTTCCTGGAATTCCAGGACCTCCAGGAGCACCTGGGACACCTGGAAGAATTGGTCTAGAAGGCCCTCCTGGGCCACCCGGCTTTCCAGGACCAAAG
Seq A exon
GGTGAACCAGGATTTGCATTACCTGGGCCACCTGGGCCACCAGGACTTCCAGGTTTCAAAGGAGCACTTGGTCCAAAAGGTGATCGTGGTTTCCCAGGACCTCCGGGTCCTCCAGGACGCACTGGCTTAGATGGGCTCCCTGGACCAAAAG
Seq C2 exon
GTGATGTTGGACCAAATGGACAACCTGGACCAATGGGACCTCCTGGGCTGCCAGGAATAGGTGTTCAGGGACCACCAGGACCACCAGGGATTCCTGGGCCAATAGGTCAACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0139113=Collagen=FE(52.5=100)
A:
PF0139113=Collagen=PD(27.9=33.3),PF0139113=Collagen=PU(69.2=88.2),PF0139113=Collagen=PU(9.4=11.8)
C2:
PF0139113=Collagen=PD(29.2=48.7),PF0139113=Collagen=FE(62.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAATTCCAGGACCTCCAGG
R:
CAGGTTGACCTATTGGCCCAG
Band lengths:
205-356
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