Special

HsaEX0016398 @ hg19

Exon Skipping

Gene
ENSG00000108821 | COL1A1
Description
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]
Coordinates
chr17:48266529-48267273:-
Coord C1 exon
chr17:48267220-48267273
Coord A exon
chr17:48267040-48267093
Coord C2 exon
chr17:48266529-48266636
Length
54 bp
Sequences
Splice sites
3' ss Seq
CCTATGTTCTCTCCTTCCAGGGT
3' ss Score
11.4
5' ss Seq
TCTGTAAGT
5' ss Score
7.96
Exon sequences
Seq C1 exon
GGTAATGTTGGTGCTCCTGGAGCCAAAGGTGCTCGCGGCAGCGCTGGTCCCCCT
Seq A exon
GGTGCTACTGGTTTCCCTGGTGCTGCTGGCCGAGTCGGTCCTCCTGGCCCCTCT
Seq C2 exon
GGTGCTCCTGGTACTCCCGGGCCTCAAGGTATTGCTGGACAGCGTGGTGTGGTCGGCCTGCCTGGTCAGAGAGGAGAGAGAGGCTTCCCTGGTCTTCCTGGCCCCTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821_MULTIEX1-26/28=25-28
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=FE(26.6=100)
A:
PF0139113=Collagen=FE(26.6=100),PF0139113=Collagen=PU(6.7=27.8)
C2:
PF0139113=Collagen=PD(18.7=38.9)


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:
GGTAATGTTGGTGCTCCTGGA
R:
CTCTCTCCTCTCTGACCAGGC
Band lengths:
134-188
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