HsaEX0016638 @ hg38
Exon Skipping
Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130649069-130662308:+
Coord C1 exon
chr3:130649069-130649562
Coord A exon
chr3:130658676-130658772
Coord C2 exon
chr3:130661637-130662308
Length
97 bp
Sequences
Splice sites
3' ss Seq
GCTGCTTCTGCTTCTTTTAGATT
3' ss Score
9.19
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
Exon sequences
Seq C1 exon
GAAAACCGGAATGCCCAGTGCACCCAACCGAGTTGGTGTTTGCCCTGGACCACTCCCGGGATGTCACTGAGCAGGAATTTGAGCGGATGAAGGAGATGATGGCTTTCCTGGTGAGAGACATTAAGGTCCGGGAGAACAGCTGCCCCGTGGGAGCGCACATCGCCATCCTCTCCTATAACTCCCACGCCAGGCACCTTGTGCGCTTCTCAGACGCCTACAAGAAGAGTCAACTTCTCAGAGAAATTGAAACTATTCCTTATGAGAGATCCTCTGCCAGCAGGGAGATTGGCAGAGCAATGCGGTTTATTTCCAGGAATGTCTTCAAGCGGACGCTTCCGGGGGCACACACGAGAAAAATCGCCACATTTTTCAGCAGCGGTCAGTCCGCGGATGCCCACTCCATCACCACGGCTGCCATGGAGTTCGGCGCGCTTGAAATCATTCCCGTGGTGATCACTTTCAGCAACGTGCCCTCGGTCAGGCGCGCATTTGCG
Seq A exon
ATTGACGACACTGGCACATTTCAAGTAATAGTGGTTCCCTCCGGGGCCGACTACATACCAGCATTAGAGAGACTCCAGCGGTGCACTTTCTGCTATG
Seq C2 exon
ATGTGTGCAAGCCAGATGCTTCTTGTGACCAAGCCAGACCACCCCCTGTGCAGTCTTACATGGATGCTGCTTTCCTTCTGGATGCCTCCCGGAACATGGGAAGTGCTGAATTTGAAGACATAAGAGCCTTCCTTGGAGCACTATTAGATCACTTTGAAATCACCCCAGAGCCGGAGACTTCTGTCACTGGAGACCGGGTGGCCCTATTGAGCCATGCTCCCCCCGACTTCCTACCCAACACTCAGAAGAGTCCAGTTAGAGCTGAGTTCAATCTTACCACCTACAGAAGTAAGCGCCTCATGAAGAGGCATGTGCACGAGTCAGTTAAACAACTAAATGGAGATGCTTTTATTGGTCATGCCTTACAGTGGACTCTGGACAATGTATTTTTAAGTACACCCAATCTGAGAAGAAACAAAGTCATATTTGTGATATCTGCTGGGGAAACCAGCCACTTAGATGGGGAAATCTTAAAGAAGGAATCCTTGCGAGCCAAATGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384_MULTIEX1-6/7=5-C2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.079 A=0.000 C2=0.018
Domain overlap (PFAM):
C1:
PF0009223=VWA=PU(94.5=93.3)
A:
PF0009223=VWA=PD(4.3=21.2)
C2:
PF0009223=VWA=WD(100=80.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGCTTGAAATCATTCCCGTG
R:
TTCAGCACTTCCCATGTTCCG
Band lengths:
176-273
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