Special

HsaEX0016596 @ hg19

Exon Skipping

Gene
ENSG00000197565 | COL4A6
Description
collagen, type IV, alpha 6 [Source:HGNC Symbol;Acc:2208]
Coordinates
chrX:107436858-107438356:-
Coord C1 exon
chrX:107438312-107438356
Coord A exon
chrX:107437764-107437817
Coord C2 exon
chrX:107436858-107436927
Length
54 bp
Sequences
Splice sites
3' ss Seq
TAACTATGTTTCTGTCACAGGGC
3' ss Score
9.69
5' ss Seq
GAGGTAATG
5' ss Score
8.73
Exon sequences
Seq C1 exon
GGTCCCATGGGTTCAGAAGGAGTCCAAGGCCCTCCAGGGCAACAG
Seq A exon
GGCAAGAAAGGGACCCTGGGATTTCCTGGGCTTAATGGATTCCAAGGAATTGAG
Seq C2 exon
GGTCAAAAGGGTGACATTGGCCTGCCAGGCCCAGATGTTTTCATCGATATAGATGGTGCTGTGATCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565_CASSETTE7
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=0.819 C2=0.931
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(5.7=33.3),PF0139113=Collagen=FE(21.2=100)
A:
PF0139113=Collagen=FE(25.8=100)
C2:
PF0139113=Collagen=PD(16.7=45.8),PF0139113=Collagen=PU(3.2=8.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTCCCATGGGTTCAGAAGGA
R:
CTGAGATCACAGCACCATCTAT
Band lengths:
115-169
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