Special

HsaEX6048199 @ hg19

Exon Skipping

Gene
ENSG00000111799 | COL12A1
Description
collagen, type XII, alpha 1 [Source:HGNC Symbol;Acc:2188]
Coordinates
chr6:75843009-75844571:-
Coord C1 exon
chr6:75844442-75844571
Coord A exon
chr6:75843574-75843713
Coord C2 exon
chr6:75843009-75843138
Length
140 bp
Sequences
Splice sites
3' ss Seq
GGGATTTCTGTGCATTTCAGAAC
3' ss Score
7
5' ss Seq
CTGGTAATT
5' ss Score
5.99
Exon sequences
Seq C1 exon
ACCACAATAGGAGGACGGCAGAACAGTGTGGTCCTGCAGAAACTGAAGCCAGACACTCCTTACACTATCACCGTATCCTCTCTGTATCCTGATGGTGAAGGAGGTCGGATGACGGGAAGAGGCAAGACCA
Seq A exon
AACCTCTAAACACTGTAAGGAACCTGAGAGTGTATGACCCTTCTACCAGCACCTTGAATGTCCGCTGGGACCATGCAGAGGGAAATCCTCGTCAGTACAAGCTCTTCTATGCACCAGCAGCAGGTGGTCCAGAGGAACTG
Seq C2 exon
GTACCAATCCCCGGGAATACCAATTATGCCATTCTTAGGAATCTGCAGCCAGATACCTCATACACTGTGACTGTAGTTCCCGTTTATACTGAAGGTGATGGGGGACGCACATCAGATACTGGAAGGACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-'42-46,'42-45,44-46=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.798 A=0.639 C2=0.699
Domain overlap (PFAM):

C1:
PF0004116=fn3=PD(43.9=81.8)
A:
PF0004116=fn3=PU(52.4=91.5)
C2:
PF0004116=fn3=PD(45.1=84.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATAGGAGGACGGCAGAACAGT
R:
TATCTGATGTGCGTCCCCCAT
Band lengths:
242-382
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains