HsaEX6062813 @ hg38
Exon Skipping
Gene
ENSG00000106804 | C5
Description
complement C5 [Source:HGNC Symbol;Acc:HGNC:1331]
Coordinates
chr9:120999677-121006977:-
Coord C1 exon
chr9:121006904-121006977
Coord A exon
chr9:121005919-121006058
Coord C2 exon
chr9:120999677-121000051
Length
140 bp
Sequences
Splice sites
3' ss Seq
GCTTCCACTTTGGGCTGAAGGTA
3' ss Score
2.39
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
AAAACAGTTGCAGTTTGCCCTACCTGATTCTCTAACCACCTGGGAAATTCAAGGCGTTGGCATTTCAAACACTG
Seq A exon
GTATATGTGTTGCTGATACTGTCAAGGCAAAGGTGTTCAAAGATGTCTTCCTGGAAATGAATATACCATATTCTGTTGTACGAGGAGAACAGATCCAATTGAAAGGAACTGTTTACAACTATAGGACTTCTGGGATGCAG
Seq C2 exon
AGTCTCGCCCTGTCGCCCAGGCTGGAGTGCAATGGGAAGATCTCGGGTCACTGCAAGCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCAGCCAACTTGACAGCATTTTAAAGTGTCATGCATATCACTATACTGCCATATTTTATTTAATCTTTAAATTTTCAGTGCATTTCCATCATATCAAAATAAGAAACAAGTACATCTGTGATATTTTGGGCTTAGTTCCTGTTAATTACCTTTCCTCCTGAGTGTGGGTTACACTTTCCTATTTCTTTTTATCTAGTAATTTTGGATTGAATCTTCTACTTTATTAATAAAAATATTATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106804-'30-32,'30-29,31-32=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=NA
Domain overlap (PFAM):
C1:
PF0020717=A2M=FE(28.4=100)
A:
PF0020717=A2M=FE(52.3=100)
C2:
NA

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:
ACAGTTGCAGTTTGCCCTACC
R:
TGGCAGTATAGTGATATGCATGACA
Band lengths:
256-396
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains