Special

HsaEX0016382 @ hg19

Exon Skipping

Gene
ENSG00000108821 | COL1A1
Description
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]
Coordinates
chr17:48265237-48265998:-
Coord C1 exon
chr17:48265891-48265998
Coord A exon
chr17:48265457-48265510
Coord C2 exon
chr17:48265237-48265344
Length
54 bp
Sequences
Splice sites
3' ss Seq
GCTTTCCTTGCTCTCCCCAGGGT
3' ss Score
10.3
5' ss Seq
GCCGTAAGT
5' ss Score
10.11
Exon sequences
Seq C1 exon
GGTGACCGTGGTGAGACCGGCCCCGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCCTGGCCCCGTTGGCCCTGCTGGCAAGAGTGGTGATCGTGGTGAGACT
Seq A exon
GGTCCTGCTGGTCCCACCGGTCCTGTCGGCCCTGTTGGCGCCCGTGGCCCCGCC
Seq C2 exon
GGACCCCAAGGCCCCCGTGGTGACAAGGGTGAGACAGGCGAACAGGGCGACAGAGGCATAAAGGGTCACCGTGGCTTCTCTGGCCTCCAGGGTCCCCCTGGCCCTCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'59-70,'59-69,60-70
Average complexity
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(51.5=100)
A:
PF0139113=Collagen=PD(14.7=55.6),PF0139113=Collagen=PU(17.5=61.1)
C2:
PF0139113=Collagen=FE(55.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGCTCCTGGTGCTCCT
R:
CACGGTGACCCTTTATGCCTC
Band lengths:
145-199
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