Special

HsaEX0016563 @ hg19

Exon Skipping

Gene
ENSG00000188153 | COL4A5
Description
collagen, type IV, alpha 5 [Source:HGNC Symbol;Acc:2207]
Coordinates
chrX:107834791-107838831:+
Coord C1 exon
chrX:107834791-107834874
Coord A exon
chrX:107836061-107836104
Coord C2 exon
chrX:107838739-107838831
Length
44 bp
Sequences
Splice sites
3' ss Seq
AAAATATAGAACATTTTCAGGAC
3' ss Score
0.24
5' ss Seq
AAGGTAATC
5' ss Score
7.46
Exon sequences
Seq C1 exon
GTGATGAGATATGTGAACCAGGCCCTCCAGGCCCCCCAGGATCTCCAGGTGATAAAGGACTCCAAGGAGAACAAGGAGTGAAAG
Seq A exon
GACCCTGGAAGACTCTTGTGCTCCCTACTCAGTATCCCCCAAAG
Seq C2 exon
GTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153-'29-32,'29-31,30-32
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=0.400 C2=0.912
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(3.4=6.9),PF0139113=Collagen=PU(50.9=93.1)
A:
PF0139113=Collagen=PD(3.4=13.3)
C2:
PF0139113=Collagen=PD(45.5=78.1),PF0139113=Collagen=PU(25.0=46.9)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
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:
ATATGTGAACCAGGCCCTCCA
R:
TGGAGGCCCTGAAATACCAGT
Band lengths:
132-176
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