HsaEX6058469 @ hg38
Exon Skipping
Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130658676-130665096:+
Coord C1 exon
chr3:130658676-130658772
Coord A exon
chr3:130661637-130662308
Coord C2 exon
chr3:130665003-130665096
Length
672 bp
Sequences
Splice sites
3' ss Seq
GAGTAACTTTTGGTTCACAGATG
3' ss Score
6.35
5' ss Seq
GGCGTAAGT
5' ss Score
9.39
Exon sequences
Seq C1 exon
ATTGACGACACTGGCACATTTCAAGTAATAGTGGTTCCCTCCGGGGCCGACTACATACCAGCATTAGAGAGACTCCAGCGGTGCACTTTCTGCTATG
Seq A exon
ATGTGTGCAAGCCAGATGCTTCTTGTGACCAAGCCAGACCACCCCCTGTGCAGTCTTACATGGATGCTGCTTTCCTTCTGGATGCCTCCCGGAACATGGGAAGTGCTGAATTTGAAGACATAAGAGCCTTCCTTGGAGCACTATTAGATCACTTTGAAATCACCCCAGAGCCGGAGACTTCTGTCACTGGAGACCGGGTGGCCCTATTGAGCCATGCTCCCCCCGACTTCCTACCCAACACTCAGAAGAGTCCAGTTAGAGCTGAGTTCAATCTTACCACCTACAGAAGTAAGCGCCTCATGAAGAGGCATGTGCACGAGTCAGTTAAACAACTAAATGGAGATGCTTTTATTGGTCATGCCTTACAGTGGACTCTGGACAATGTATTTTTAAGTACACCCAATCTGAGAAGAAACAAAGTCATATTTGTGATATCTGCTGGGGAAACCAGCCACTTAGATGGGGAAATCTTAAAGAAGGAATCCTTGCGAGCCAAATGTCAGGGATATGCCTTATTTGTGTTTTCCCTTGGCCCTATTTGGGATGACAAGGAACTGGAGGATCTCGCCAGCCACCCTTTGGATCACCACCTGGTCCAGCTTGGCCGAATTCATAAACCTGACCACAGTTATGGTGTGAAGTTTGTGAAGTCCTTTATAAACTCAATCAGGC
Seq C2 exon
GTGCAATCAACAAATATCCACCAATAAACTTAAAAATAAAGTGCAACAGACTTAACTCTATAGATCCAAAGCAGCCCCCACGACCATTCCGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384-'41-55,'41-54,44-55=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.018 C2=0.250
Domain overlap (PFAM):
C1:
PF0009223=VWA=PD(4.3=21.2)
A:
PF0009223=VWA=WD(100=80.0)
C2:
NO
Main Skipping Isoform:
ENST00000358511fB1761
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:
TTGACGACACTGGCACATTTCA
R:
CTTCGGAATGGTCGTGGGG
Band lengths:
190-862
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains