Special

HsaEX0016564 @ hg19

Exon Skipping

Gene
ENSG00000188153 | COL4A5
Description
collagen, type IV, alpha 5 [Source:HGNC Symbol;Acc:2207]
Coordinates
chrX:107838739-107840798:+
Coord C1 exon
chrX:107838739-107838831
Coord A exon
chrX:107840228-107840298
Coord C2 exon
chrX:107840607-107840798
Length
71 bp
Sequences
Splice sites
3' ss Seq
TTTGTGTGTGTGTGTGTTAGGAT
3' ss Score
9.7
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
Exon sequences
Seq C1 exon
GTGACAAAGGTGACACTTGCTTCAACTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAG
Seq A exon
GATCTCTTGGTTTCCCTGGACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCA
Seq C2 exon
GGCATTCCAGGAGCTCCAGGTGCTCCAGGCTTTCCTGGATCTAAAGGTGAACCTGGTGATATCCTCACTTTTCCAGGAATGAAGGGTGACAAAGGAGAGTTGGGTTCCCCTGGAGCTCCAGGGCTTCCTGGTTTACCTGGCACTCCTGGACAGGATGGATTGCCAGGGCTTCCTGGCCCGAAAGGAGAGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153-'31-34,'31-33,32-34
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.912 A=0.909 C2=0.960
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(45.5=78.1),PF0139113=Collagen=PU(25.0=46.9)
A:
PF0139113=Collagen=PD(1.6=4.2),PF0139113=Collagen=FE(38.3=100)
C2:
PF0139113=Collagen=PD(33.3=31.2),PF0139113=Collagen=PU(83.7=64.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTGCCAGGTCTCCCAGGTC
R:
TGTCCAGGAGTGCCAGGTAAA
Band lengths:
178-249
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development