HsaEX0016284 @ hg38
Exon Skipping
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75165507-75177935:-
Coord C1 exon
chr6:75177663-75177935
Coord A exon
chr6:75175038-75175310
Coord C2 exon
chr6:75165507-75165779
Length
273 bp
Sequences
Splice sites
3' ss Seq
GTTGTCATTTTTTAATGAAGTTA
3' ss Score
1.94
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
TAAAAGGAGCACCTCGAAACCTAAAGGTGACAGATGAGACTACAGATAGTTTCAAAATTACTTGGACTCAAGCTCCAGGGAGAGTTTTAAGATATCGAATTATATATAGACCAGTTGCTGGTGGAGAGAGCAGAGAAGTTACCACCCCACCCAATCAGAGGAGGAGAACACTGGAGAACTTGATTCCAGACACGAAATATGAAGTATCTGTAATTCCTGAATATTTCTCAGGACCTGGTACTCCATTAACTGGAAATGCAGCCACTGAAGAAG
Seq A exon
TTAGAGGGAATCCAAGAGACTTAAGAGTTTCTGACCCTACGACGTCTACTATGAAATTATCTTGGAGTGGGGCACCAGGAAAAGTGAAACAGTATCTCGTCACATATACCCCAGTGGCAGGGGGTGAAACTCAAGAGGTCACTGTGAGGGGAGATACAACCAATACGGTGCTGCAGGGATTGAAGGAAGGGACACAATACGCCTTATCTGTGACAGCCTTGTATGCGTCTGGGGCTGGAGACGCCCTCTTTGGTGAAGGAACAACACTTGAAG
Seq C2 exon
AACGTGGTTCTCCTCAAGATTTAGTTACTAAAGACATCACTGACACATCAATTGGGGCTTATTGGACATCTGCTCCAGGAATGGTTCGCGGTTACAGGGTCTCATGGAAATCACTTTATGATGATGTTGACACTGGAGAGAAAAATCTGCCTGAAGATGCAATTCATACGATGATAGAAAATCTGCAGCCAGAGACCAAATACAGAATTTCAGTATTTGCCACTTACAGCAGTGGAGAAGGAGAACCTTTGACTGGAGATGCCACAACTGAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'22-32,'22-27,24-32
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.489 A=0.524 C2=0.402
Domain overlap (PFAM):
C1:
PF0004116=fn3=WD(100=84.8)
A:
PF0004116=fn3=WD(100=87.0)
C2:
PF0004116=fn3=WD(100=88.0)
Main Skipping Isoform:
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:
GACTCAAGCTCCAGGGAGAGT
R:
TGTAACCGCGAACCATTCCTG
Band lengths:
305-578
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