Special

HsaEX0016601 @ hg19

Exon Skipping

Gene
ENSG00000197565 | COL4A6
Description
collagen, type IV, alpha 6 [Source:HGNC Symbol;Acc:2208]
Coordinates
chrX:107408107-107412850:-
Coord C1 exon
chrX:107412725-107412850
Coord A exon
chrX:107408600-107408716
Coord C2 exon
chrX:107408107-107408268
Length
117 bp
Sequences
Splice sites
3' ss Seq
CTTTTATTTATTCTTTACAGGTT
3' ss Score
11.02
5' ss Seq
GAGGTAAAG
5' ss Score
8.27
Exon sequences
Seq C1 exon
GACCTAGTATCACCGGTGTGCCTGGGCCTGCTGGTCTCCCTGGACCCAAAGGAGAAAAAGGATATCCAGGAATTGGCATCGGAGCTCCAGGGAAGCCGGGCCTGAGAGGGCAAAAAGGTGATCGAG
Seq A exon
GTTTCCCAGGTCTCCAGGGCCCTGCTGGTCTCCCCGGTGCCCCAGGCATCTCCTTGCCCTCACTCATAGCAGGACAGCCTGGTGACCCCGGGCGACCAGGCCTAGATGGAGAACGAG
Seq C2 exon
GCCGCCCAGGCCCCGCTGGACCCCCAGGTCCCCCTGGGCCATCCTCGAATCAAGGCGACACCGGAGACCCTGGCTTCCCTGGAATTCCTGGACCTAAAGGGCCTAAGGGAGACCAAGGAATTCCAGGTTTTTCTGGCCTCCCTGGAGAGCTAGGACTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565_MULTIEX1-3/3=2-C2
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=1.000 C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(31.2=58.1),PF0139113=Collagen=PU(65.0=90.7)
A:
PF0139113=Collagen=PD(33.3=50.0),PF0139113=Collagen=PU(27.4=42.5)
C2:
PF0139113=Collagen=PD(71.0=80.0),PF0139113=Collagen=PU(23.8=27.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCCTGGACCCAAAGGAGAA
R:
TCAGTCCTAGCTCTCCAGGGA
Band lengths:
250-367
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