Special

HsaEX1009473 @ hg38

Exon Skipping

Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130644991-130658772:+
Coord C1 exon
chr3:130644991-130645002
Coord A exon
chr3:130649069-130649562
Coord C2 exon
chr3:130658676-130658772
Length
494 bp
Sequences
Splice sites
3' ss Seq
TAAGGGATATGGTCTTTTAGGAA
3' ss Score
5.53
5' ss Seq
GCGGTATGA
5' ss Score
7.46
Exon sequences
Seq C1 exon
CTGGCAGGCATG
Seq A exon
GAAAACCGGAATGCCCAGTGCACCCAACCGAGTTGGTGTTTGCCCTGGACCACTCCCGGGATGTCACTGAGCAGGAATTTGAGCGGATGAAGGAGATGATGGCTTTCCTGGTGAGAGACATTAAGGTCCGGGAGAACAGCTGCCCCGTGGGAGCGCACATCGCCATCCTCTCCTATAACTCCCACGCCAGGCACCTTGTGCGCTTCTCAGACGCCTACAAGAAGAGTCAACTTCTCAGAGAAATTGAAACTATTCCTTATGAGAGATCCTCTGCCAGCAGGGAGATTGGCAGAGCAATGCGGTTTATTTCCAGGAATGTCTTCAAGCGGACGCTTCCGGGGGCACACACGAGAAAAATCGCCACATTTTTCAGCAGCGGTCAGTCCGCGGATGCCCACTCCATCACCACGGCTGCCATGGAGTTCGGCGCGCTTGAAATCATTCCCGTGGTGATCACTTTCAGCAACGTGCCCTCGGTCAGGCGCGCATTTGCG
Seq C2 exon
ATTGACGACACTGGCACATTTCAAGTAATAGTGGTTCCCTCCGGGGCCGACTACATACCAGCATTAGAGAGACTCCAGCGGTGCACTTTCTGCTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384-'38-52,'38-48,39-52
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.079 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0009223=VWA=PU(94.5=93.3)
C2:
PF0009223=VWA=PD(4.3=21.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains