Special

HsaEX6048214 @ hg19

Exon Skipping

Gene
ENSG00000111799 | COL12A1
Description
collagen, type XII, alpha 1 [Source:HGNC Symbol;Acc:2188]
Coordinates
chr6:75816135-75823029:-
Coord C1 exon
chr6:75822920-75823029
Coord A exon
chr6:75818734-75818883
Coord C2 exon
chr6:75816135-75816212
Length
150 bp
Sequences
Splice sites
3' ss Seq
GAAACAAATTATCTTTTTAGGTT
3' ss Score
7.86
5' ss Seq
GCAGTGAGT
5' ss Score
7.39
Exon sequences
Seq C1 exon
CTTCTAGCAAGACGTTATCATTCTTTAACAAGGATACAAGAGGCGAGGTGCAAACTGTTACATTTGACACAGAAGAAGTAAAGACATTATTTTATGGAAGTTTTCACAAG
Seq A exon
GTTCATATTGTAGTGACCTCAAAAAGTGTTAAGATTTACATTGACTGCTATGAAATTATAGAAAAAGACATCAAGGAAGCTGGAAATATAACAACTGATGGTTATGAAATTCTTGGAAAACTCCTTAAAGGGGAAAGGAAATCAGCCGCA
Seq C2 exon
TTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'66-71,'66-69,68-71=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.081 A=0.000 C2=0.038
Domain overlap (PFAM):

C1:
PF079537=Toxin_R_bind_N=PU(35.4=94.6)
A:
PF079537=Toxin_R_bind_N=FE(49.5=100)
C2:
PF079537=Toxin_R_bind_N=PD(12.1=46.2)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTAGCAAGACGTTATCATTCTT
R:
CCTAGAGGGAATATCACAGCATCTG
Band lengths:
188-338
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains