HsaEX6023491 @ hg38
Exon Skipping
Gene
ENSG00000108821 | COL1A1
Description
collagen type I alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2197]
Coordinates
chr17:50195434-50195976:-
Coord C1 exon
chr17:50195923-50195976
Coord A exon
chr17:50195567-50195665
Coord C2 exon
chr17:50195434-50195478
Length
99 bp
Sequences
Splice sites
3' ss Seq
TGTCCTTTCTTCTGATTCAGGGT
3' ss Score
11.72
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAG
Seq A exon
GGTGAAGCTGGTCCCCAAGGGCCCCGAGGCTCTGAAGGTCCCCAGGGTGTGCGTGGTGAGCCTGGCCCCCCTGGCCCTGCTGGTGCTGCTGGCCCTGCT
Seq C2 exon
GGAAACCCTGGTGCTGATGGACAGCCTGGTGCTAAAGGTGCCAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-'25-24,'25-23,26-24=AN
Average complexity
A_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(28.3=100)
A:
PF0139113=Collagen=PD(3.3=6.1),PF0139113=Collagen=PU(50.8=97.0)
C2:
PF0139113=Collagen=FE(22.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTCCTCCTGGCTTCCCTG
R:
ATTGGCACCTTTAGCACCAGG
Band lengths:
81-180
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains