HsaEX6058494 @ hg38
Exon Skipping
Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130564994-130568604:+
Coord C1 exon
chr3:130564994-130565614
Coord A exon
chr3:130566702-130567262
Coord C2 exon
chr3:130568047-130568604
Length
561 bp
Sequences
Splice sites
3' ss Seq
ACTTATTGATTCCTTTTTAGGTT
3' ss Score
10.14
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
AAAGGAAAATTGCATGAGGGTTGGCCTTGTGGCCTATAGCAATGAGACAAAAGTGATAAATTCACTGAGCATGGGCATAAATAAGTCAGAGGTTCTCCAGCATATACAGAACCTTTCTCCCCGAACTGGGAAGGCCTATACTGGAGCTGCCATCAAAAAGCTCAGGAAGGAAGTTTTTAGTGCACGGAATGGCAGTCGGAAGAATCAGGGGGTGCCCCAGATTGCCGTGCTGGTGACCCACCGAGATTCAGAAGACAACGTGACAAAAGCAGCTGTTAACCTCCGACGGGAGGGTGTGACCATCTTCACCCTGGGCATAGAGGGCGCCAGCGACACCCAGTTGGAAAAGATAGCATCCCACCCTGCTGAGCAGTATGTCTCCAAACTGAAGACCTTCGCTGACCTGGCTGCTCACAACCAGACATTTCTGAAGAAGCTGCGGAACCAAATAACACACACAGTCTCTGTCTTTTCAGAGAGGACTGAAACGCTCAAATCTG
Seq A exon
GTTGTGTGGACACTGAGGAAGCAGACATCTATCTGCTTATCGATGGCTCAGGGAGCACCCAGGCCACAGATTTCCATGAAATGAAGACGTTCCTGTCAGAGGTGGTAGGGATGTTCAACATTGCTCCCCATAAGGTGCGGGTTGGGGCCGTTCAGTATGCTGACAGCTGGGACTTGGAATTTGAGATCAATAAATACTCCAACAAGCAGGATTTGGGAAAGGCCATTGAGAATATCAGGCAGATGGGTGGGAATACAAACACAGGCGCAGCACTGAATTTCACACTGAGTCTGTTGCAAAAAGCAAAGAAGCAGCGAGGAAACAAAGTTCCATGCCACCTTGTTGTCCTGACAAATGGCATGTCCAAGGATAGCATCTTGGAGCCTGCAAACAGACTGAGAGAAGAGCACATCCGAGTTTATGCTATCGGGATCAAGGAGGCCAACCAAACACAGCTGAGAGAAATTGCAGGAGAGGAAAAGAGAGTGTATTACGTGCATGACTTTGATGCATTGAAAGACATAAGAAACCAAGTTGTTCAAGAAATCTGTACTGAAGAAG
Seq C2 exon
CTTGCAAAGAGATGAAAGCTGACATCATGTTTCTGGTGGACAGTTCTGGAAGTATAGGACCTGAAAACTTCAGCAAAATGAAAACATTTATGAAAAACCTGGTGAGCAAGTCTCAGATTGGACCAGATCGGGTGCAAATTGGTGTAGTCCAGTTCAGCGACATCAATAAGGAAGAGTTTCAGCTCAACAGATTCATGTCCCAAAGCGACATTTCAAATGCAATAGACCAAATGGCTCACATTGGACAAACCACCCTGACTGGTAGTGCCCTGAGCTTTGTGTCTCAGTACTTCAGCCCCACCAAGGGCGCCCGGCCCAACATCAGAAAGTTTCTCATCCTCATCACGGATGGTGAAGCTCAGGACATAGTAAAGGAACCAGCAGTAGTGCTTCGGCAAGAAGGTGTAATCATCTATTCTGTGGGAGTGTTTGGCTCCAATGTCACCCAGCTTGAGGAGATCAGTGGGAGGCCCGAGATGGTTTTTTATGTTGAGAATTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384-'3-4,'3-3,4-4=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.038 A=0.021 C2=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=WD(100=86.1)
A:
PF0009223=VWA=WD(100=92.0)
C2:
PF0009223=VWA=WD(100=90.9)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTTCACCCTGGGCATAGAGG
R:
TCGCTGAACTGGACTACACCA
Band lengths:
358-919
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains