Special

HsaEX6052882 @ hg19

Exon Skipping

Gene
ENSG00000188153 | COL4A5
Description
collagen, type IV, alpha 5 [Source:HGNC Symbol;Acc:2207]
Coordinates
chrX:107802294-107811903:+
Coord C1 exon
chrX:107802294-107802383
Coord A exon
chrX:107807112-107807156
Coord C2 exon
chrX:107811859-107811903
Length
45 bp
Sequences
Splice sites
3' ss Seq
AAAAATATTGCATTTTTCAGGGT
3' ss Score
6.93
5' ss Seq
AGAGTAAGT
5' ss Score
9.35
Exon sequences
Seq C1 exon
GGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAG
Seq A exon
GGTGATGATGGAATTCCAGGGCCACCAGGACCAAAAGGAATCAGA
Seq C2 exon
GGTCCTCCTGGACTTCCTGGATTTCCAGGGACACCAGGTCTTCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153-'6-9,'6-7,8-9=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.996 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(50.0=100),PF0139113=Collagen=PU(21.2=56.7)
A:
PF0139113=Collagen=FE(16.3=100),PF0139113=Collagen=PU(13.1=73.3)
C2:
PF0139113=Collagen=PD(15.3=73.3),PF0139113=Collagen=FE(17.1=100),PF0139113=Collagen=PU(13.6=60.0)


Main Inclusion Isoform:


Main Skipping Isoform:


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:
GGAGAGAGAGGGTTTCCAGGT
R:
AGGAAGACCTGGTGTCCCTG
Band lengths:
135-180
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains