Special

HsaEX0016640 @ hg19

Exon Skipping

Gene
ENSG00000206384 | COL6A6
Description
collagen, type VI, alpha 6 [Source:HGNC Symbol;Acc:27023]
Coordinates
chr3:130361831-130368406:+
Coord C1 exon
chr3:130361831-130361867
Coord A exon
chr3:130365223-130365235
Coord C2 exon
chr3:130367913-130368406
Length
13 bp
Sequences
Splice sites
3' ss Seq
GGTCAGGAGTTTGAGACCAGCCT
3' ss Score
-12.98
5' ss Seq
ATAGTGAAA
5' ss Score
-8.52
Exon sequences
Seq C1 exon
ACATGTGAGCTCATTCAGTATGTGCGAGACCGCAGTC
Seq A exon
CCTGGCCAACATA
Seq C2 exon
GAAAACCGGAATGCCCAGTGCACCCAACCGAGTTGGTGTTTGCCCTGGACCACTCCCGGGATGTCACTGAGCAGGAATTTGAGCGGATGAAGGAGATGATGGCTTTCCTGGTGAGAGACATTAAGGTCCGGGAGAACAGCTGCCCCGTGGGAGCGCACATCGCCATCCTCTCCTATAACTCCCACGCCAGGCACCTTGTGCGCTTCTCAGACGCCTACAAGAAGAGTCAACTTCTCAGAGAAATTGAAACTATTCCTTATGAGAGATCCTCTGCCAGCAGGGAGATTGGCAGAGCAATGCGGTTTATTTCCAGGAATGTCTTCAAGCGGACGCTTCCGGGGGCACACACGAGAAAAATCGCCACATTTTTCAGCAGCGGTCAGTCCGCGGATGCCCACTCCATCACCACGGCTGCCATGGAGTTCGGCGCGCTTGAAATCATTCCCGTGGTGATCACTTTCAGCAACGTGCCCTCGGTCAGGCGCGCATTTGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384-MICROEX1-2/2
Average complexity
MIC_M
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.385 A=NA C2=0.079
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0009223=VWA=PU(94.5=93.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
TCATTCAGTATGTGCGAGACCG
R:
CTCAGTGACATCCCGGGAGT
Band lengths:
98-111
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