Special

HsaEX6009029 @ hg19

Exon Skipping

Gene
ENSG00000164692 | COL1A2
Description
collagen, type I, alpha 2 [Source:HGNC Symbol;Acc:2198]
Coordinates
chr7:94042395-94043259:+
Coord C1 exon
chr7:94042395-94042448
Coord A exon
chr7:94043002-94043055
Coord C2 exon
chr7:94043206-94043259
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTTCTGTTAAATATTTTTAGGGT
3' ss Score
8.44
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GGTGATCCTGGCAAAAACGGTGATAAAGGTCATGCTGGTCTTGCTGGTGCTCGG
Seq A exon
GGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAG
Seq C2 exon
GGTGTTCAAGGTGGAAAAGGTGAACAGGGTCCCCCTGGTCCTCCAGGCTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-'32-31,'32-29,33-31=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(24.3=100)
A:
PF0139113=Collagen=PD(12.9=50.0)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGATCCTGGCAAAAACGGT
R:
CTGGAAGCCTGGAGGACCA
Band lengths:
108-162
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains