HsaEX6092297 @ hg38
Exon Skipping
Gene
ENSG00000125730 | C3
Description
complement C3 [Source:HGNC Symbol;Acc:HGNC:1318]
Coordinates
chr19:6710639-6712406:-
Coord C1 exon
chr19:6712257-6712406
Coord A exon
chr19:6710987-6711196
Coord C2 exon
chr19:6710639-6710845
Length
210 bp
Sequences
Splice sites
3' ss Seq
ATCCCTCTTTCCCCACCCAGGTG
3' ss Score
10.76
5' ss Seq
CTGGTCCGT
5' ss Score
3.26
Exon sequences
Seq C1 exon
GTGTTCGTGACGAACCCTGATGGCTCTCCAGCCTACCGAGTCCCCGTGGCAGTCCAGGGCGAGGACACTGTGCAGTCTCTAACCCAGGGAGATGGCGTGGCCAAACTCAGCATCAACACACACCCCAGCCAGAAGCCCTTGAGCATCACG
Seq A exon
GTGCGCACGAAGAAGCAGGAGCTCTCGGAGGCAGAGCAGGCTACCAGGACCATGCAGGCTCTGCCCTACAGCACCGTGGGCAACTCCAACAATTACCTGCATCTCTCAGTGCTACGTACAGAGCTCAGACCCGGGGAGACCCTCAACGTCAACTTCCTCCTGCGAATGGACCGCGCCCACGAGGCCAAGATCCGCTACTACACCTACCTG
Seq C2 exon
ATCATGAACAAGGGCAGGCTGTTGAAGGCGGGACGCCAGGTGCGAGAGCCCGGCCAGGACCTGGTGGTGCTGCCCCTGTCCATCACCACCGACTTCATCCCTTCCTTCCGCCTGGTGGCGTACTACACGCTGATCGGTGCCAGCGGCCAGAGGGAGGTGGTGGCCGACTCCGTGTGGGTGGACGTCAAGGACTCCTGCGTGGGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125730-'24-36,'24-33,26-36=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.300 A=0.257 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF077039=A2M_N_2=PU(24.7=52.9)
C2:
PF077039=A2M_N_2=FE(45.3=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:
CGAGGACACTGTGCAGTCTCT
R:
CACGCAGGAGTCCTTGACG
Band lengths:
292-502
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains