Special

HsaEX0016640 @ hg38

Exon Skipping

Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130642987-130649562:+
Coord C1 exon
chr3:130642987-130643023
Coord A exon
chr3:130644991-130645002
Coord C2 exon
chr3:130649069-130649562
Length
12 bp
Sequences
Splice sites
3' ss Seq
CCTTTGTTCTTCTTCCCCAGCTG
3' ss Score
10.44
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
ACATGTGAGCTCATTCAGTATGTGCGAGACCGCAGTC
Seq A exon
CTGGCAGGCATG
Seq C2 exon
GAAAACCGGAATGCCCAGTGCACCCAACCGAGTTGGTGTTTGCCCTGGACCACTCCCGGGATGTCACTGAGCAGGAATTTGAGCGGATGAAGGAGATGATGGCTTTCCTGGTGAGAGACATTAAGGTCCGGGAGAACAGCTGCCCCGTGGGAGCGCACATCGCCATCCTCTCCTATAACTCCCACGCCAGGCACCTTGTGCGCTTCTCAGACGCCTACAAGAAGAGTCAACTTCTCAGAGAAATTGAAACTATTCCTTATGAGAGATCCTCTGCCAGCAGGGAGATTGGCAGAGCAATGCGGTTTATTTCCAGGAATGTCTTCAAGCGGACGCTTCCGGGGGCACACACGAGAAAAATCGCCACATTTTTCAGCAGCGGTCAGTCCGCGGATGCCCACTCCATCACCACGGCTGCCATGGAGTTCGGCGCGCTTGAAATCATTCCCGTGGTGATCACTTTCAGCAACGTGCCCTCGGTCAGGCGCGCATTTGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384-MICROEX1-1/3
Average complexity
MIC-M
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.385 A=1.000 C2=0.079
Domain overlap (PFAM):

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


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
([1])
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCATTCAGTATGTGCGAGACCG
R:
CTCAGTGACATCCCGGGAGT
Band lengths:
98-110
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