Special

HsaEX0016288 @ hg19

Exon Skipping

Gene
ENSG00000111799 | COL12A1
Description
collagen, type XII, alpha 1 [Source:HGNC Symbol;Acc:2188]
Coordinates
chr6:75862049-75912543:-
Coord C1 exon
chr6:75912436-75912543
Coord A exon
chr6:75864132-75864253
Coord C2 exon
chr6:75862049-75862198
Length
122 bp
Sequences
Splice sites
3' ss Seq
TATATACTTTAACATTTTAGGGC
3' ss Score
8.04
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
ATCTCTTCATGCCGCTGTAAGCTCGGAGGCCAAGGATGCGGAGTAGGCTTCCCCCAGCGCTTGCCGCCCTGGGCGCGGCCCTGCTCCTGTCTTCCATTGAGGCAGAAG
Seq A exon
GGCTGGTACCACCTATAAAGTAAATGTTTTTGGAATGTTTGATGGAGGAGAAAGCTCACCACTTGTTGGACAAGAAATGACAACCCTTTCCGACACAACTGTTATGCCAATTTTATCTTCTG
Seq C2 exon
GGATGGAGTGTCTCACCAGAGCTGAGGCAGACATTGTGTTGCTGGTGGATGGATCATGGAGCATCGGCCGGGCAAATTTTAGAACCGTGAGGAGTTTCATTTCTCGTATTGTGGAAGTCTTTGACATTGGCCCCAAAAGAGTACAAATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799_MULTIEX1-15/15=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.119 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0004116=fn3=PD(24.7=47.6)
C2:
PF0009223=VWA=PU(23.1=78.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCTTCATGCCGCTGTAAGCT
R:
TTGGGGCCAATGTCAAAGACT
Band lengths:
242-364
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