Special

HsaEX0016413 @ hg19

Exon Skipping

Gene
ENSG00000164692 | COL1A2
Description
collagen, type I, alpha 2 [Source:HGNC Symbol;Acc:2198]
Coordinates
chr7:94049703-94054536:+
Coord C1 exon
chr7:94049703-94049756
Coord A exon
chr7:94049853-94049960
Coord C2 exon
chr7:94054429-94054536
Length
108 bp
Sequences
Splice sites
3' ss Seq
TAACTGTTTATTTCCAACAGGGT
3' ss Score
9.11
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GGTGAACGTGGTGAGGTCGGTCCTGCTGGCCCCAATGGATTTGCTGGTCCTGCT
Seq A exon
GGTGCTGCTGGTCAACCTGGTGCTAAAGGAGAAAGAGGAGCCAAAGGGCCTAAGGGTGAAAACGGTGTTGTTGGTCCCACAGGCCCCGTTGGAGCTGCTGGCCCAGCT
Seq C2 exon
GGTGAACCTGGTCCTCTTGGCATTGCCGGCCCTCCTGGGGCCCGTGGTCCTCCTGGTGCTGTGGGTAGTCCTGGAGTCAACGGTGCTCCTGGTGAAGCTGGTCGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692_MULTIEX1-25/29=24-C2
Average complexity
C3
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:
NO
A:
PF0139113=Collagen=PU(17.7=38.9)
C2:
PF0139113=Collagen=FE(38.9=100)


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:
GGTGAACGTGGTGAGGTCG
R:
ATCACGACCAGCTTCACCAGG
Band lengths:
162-270
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development