HsaEX0016280 @ hg19
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen, type XII, alpha 1 [Source:HGNC Symbol;Acc:2188]
Coordinates
chr6:75829066-75833120:-
Coord C1 exon
chr6:75833046-75833120
Coord A exon
chr6:75831018-75831157
Coord C2 exon
chr6:75829066-75829189
Length
140 bp
Sequences
Splice sites
3' ss Seq
TCTGCTTTCTTTTTTTGCAGTAT
3' ss Score
10.15
5' ss Seq
CAGGTTAGT
5' ss Score
8.02
Exon sequences
Seq C1 exon
CTGTGAAACCAACAGAAGCCCCTACAGAGCCACCCACACCTCCTCCCCCTCCCACCATTCCACCAGCCCGGGATG
Seq A exon
TATGCAAAGGGGCCAAGGCAGATATTGTGTTCTTGACTGATGCCTCCTGGAGCATTGGGGACGATAATTTTAACAAAGTTGTAAAATTCATCTTCAATACTGTGGGAGGCTTTGATGAAATCAGTCCTGCTGGGATTCAG
Seq C2 exon
GTTTCATTTGTGCAATACAGCGATGAGGTCAAGTCTGAGTTCAAGCTGAACACGTACAATGACAAGGCCCTAGCCCTTGGGGCCCTCCAGAATATTAGGTACAGAGGAGGAAACACAAGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'56-60,'56-59,57-60
Average complexity
S
Mappability confidence:
88%=100=75%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.962 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0009223=VWA=PU(22.4=83.0)
C2:
PF0009223=VWA=PU(30.6=97.6)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGAAACCAACAGAAGCCCC
R:
TCTTGTGTTTCCTCCTCTGTACCT
Band lengths:
194-334
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)