Special

HsaEX0016392 @ hg19

Exon Skipping

Gene
ENSG00000108821 | COL1A1
Description
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]
Coordinates
chr17:48267362-48269889:-
Coord C1 exon
chr17:48269836-48269889
Coord A exon
chr17:48269341-48269385
Coord C2 exon
chr17:48267362-48267469
Length
45 bp
Sequences
Splice sites
3' ss Seq
CCTCTCTCCCTCCCCCTCAGGGT
3' ss Score
11.7
5' ss Seq
AGAGTAAGT
5' ss Score
9.35
Exon sequences
Seq C1 exon
GGTCTCCCTGGTCCTGCTGGTCCTCCAGGTGAAGCAGGCAAACCTGGTGAACAG
Seq A exon
GGTGTTCCTGGAGACCTTGGCGCCCCTGGCCCCTCTGGAGCAAGA
Seq C2 exon
GGTGCTGACGGCCAACCTGGTGCTAAAGGCGAACCTGGTGATGCTGGTGCTAAAGGCGATGCTGGTCCCCCTGGCCCTGCCGGACCCGCTGGACCCCCTGGCCCCATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821_MULTIEX1-18/28=17-24
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:
NO
A:
NO
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
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCCTGGTCCTGCTGGTC
R:
GACCAGCATCGCCTTTAGCAC
Band lengths:
118-163
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