Special

HsaEX0016386 @ hg19

Exon Skipping

Gene
ENSG00000108821 | COL1A1
Description
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]
Coordinates
chr17:48267362-48272189:-
Coord C1 exon
chr17:48272082-48272189
Coord A exon
chr17:48271934-48271987
Coord C2 exon
chr17:48267362-48267469
Length
54 bp
Sequences
Splice sites
3' ss Seq
GGCCTCCTCTCCTCCTGCAGGGT
3' ss Score
11.09
5' ss Seq
AAGGTAACC
5' ss Score
9.24
Exon sequences
Seq C1 exon
GGCCCTGTTGGTGTTCAAGGACCCCCTGGCCCTGCTGGAGAGGAAGGAAAGCGAGGAGCTCGAGGTGAACCCGGACCCACTGGCCTGCCCGGACCCCCTGGCGAGCGT
Seq A exon
GGTGGACCTGGTAGCCGTGGTTTCCCTGGCGCAGATGGTGTTGCTGGTCCCAAG
Seq C2 exon
GGTGCTGACGGCCAACCTGGTGCTAAAGGCGAACCTGGTGATGCTGGTGCTAAAGGCGATGCTGGTCCCCCTGGCCCTGCCGGACCCGCTGGACCCCCTGGCCCCATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821_MULTIEX1-10/28=9-24
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:
PF0139113=Collagen=PD(34.3=66.7),PF0139113=Collagen=PU(37.2=80.6)
A:
PF0139113=Collagen=FE(21.8=100)
C2:
PF0139113=Collagen=PD(33.3=55.6),PF0139113=Collagen=PU(28.1=50.0)


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:
CTGTTGGTGTTCAAGGACCCC
R:
TTCGCCTTTAGCACCAGGTTG
Band lengths:
137-191
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