HsaEX0016639 @ hg38
Exon Skipping
Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130658676-130662308:+
Coord C1 exon
chr3:130658676-130658772
Coord A exon
chr3:130660170-130660279
Coord C2 exon
chr3:130661637-130662308
Length
110 bp
Sequences
Splice sites
3' ss Seq
ACCCTTGTTTTGTCTCTTAGGCA
3' ss Score
10.17
5' ss Seq
CAGGTGACT
5' ss Score
6.6
Exon sequences
Seq C1 exon
ATTGACGACACTGGCACATTTCAAGTAATAGTGGTTCCCTCCGGGGCCGACTACATACCAGCATTAGAGAGACTCCAGCGGTGCACTTTCTGCTATG
Seq A exon
GCATATAATAAAAGAGATTTTGGCTGTTGTTTCCTGCAATTAAAAATCCTACAAAACTGAGCAAATGGGCAGCCTGCTGTCCCTGATTTTAGAAACTGCTTTGCACACAG
Seq C2 exon
ATGTGTGCAAGCCAGATGCTTCTTGTGACCAAGCCAGACCACCCCCTGTGCAGTCTTACATGGATGCTGCTTTCCTTCTGGATGCCTCCCGGAACATGGGAAGTGCTGAATTTGAAGACATAAGAGCCTTCCTTGGAGCACTATTAGATCACTTTGAAATCACCCCAGAGCCGGAGACTTCTGTCACTGGAGACCGGGTGGCCCTATTGAGCCATGCTCCCCCCGACTTCCTACCCAACACTCAGAAGAGTCCAGTTAGAGCTGAGTTCAATCTTACCACCTACAGAAGTAAGCGCCTCATGAAGAGGCATGTGCACGAGTCAGTTAAACAACTAAATGGAGATGCTTTTATTGGTCATGCCTTACAGTGGACTCTGGACAATGTATTTTTAAGTACACCCAATCTGAGAAGAAACAAAGTCATATTTGTGATATCTGCTGGGGAAACCAGCCACTTAGATGGGGAAATCTTAAAGAAGGAATCCTTGCGAGCCAAATGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384_MULTIEX1-7/7=6-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.018
Domain overlap (PFAM):
C1:
PF0009223=VWA=PD(4.3=21.2)
A:
NO
C2:
PF0009223=VWA=WD(100=80.0)
Main Inclusion Isoform:
ENST00000358511fB1761
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCGACTACATACCAGCATT
R:
TCCAGTGACAGAAGTCTCCGG
Band lengths:
244-354
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