HsaEX6036484 @ hg38
Exon Skipping
Gene
ENSG00000117335 | CD46
Description
CD46 molecule [Source:HGNC Symbol;Acc:HGNC:6953]
Coordinates
chr1:207761249-207767651:+
Coord C1 exon
chr1:207761249-207761446
Coord A exon
chr1:207767013-207767195
Coord C2 exon
chr1:207767607-207767651
Length
183 bp
Sequences
Splice sites
3' ss Seq
AGGTTTCTCTAATTTTCCAGTGG
3' ss Score
6.59
5' ss Seq
AAGGTACAA
5' ss Score
6.82
Exon sequences
Seq C1 exon
AGGTTTTGTGTACACCACCTCCAAAAATAAAAAATGGAAAACACACCTTTAGTGAAGTAGAAGTATTTGAGTATCTTGATGCAGTAACTTATAGTTGTGATCCTGCACCTGGACCAGATCCATTTTCACTTATTGGAGAGAGCACGATTTATTGTGGTGACAATTCAGTGTGGAGTCGTGCTGCTCCAGAGTGTAAAG
Seq A exon
TGGTCAAATGTCGATTTCCAGTAGTCGAAAATGGAAAACAGATATCAGGATTTGGAAAAAAATTTTACTACAAAGCAACAGTTATGTTTGAATGCGATAAGGGTTTTTACCTCGATGGCAGCGACACAATTGTCTGTGACAGTAACAGTACTTGGGATCCCCCAGTTCCAAAGTGTCTTAAAG
Seq C2 exon
TGCTGCCTCCATCTAGTACAAAACCTCCAGCTTTGAGTCATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117335-'14-13,'14-10,17-13=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.344
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=92.5)
A:
PF0008415=Sushi=WD(100=90.3)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTTTTGTGTACACCACCTCCA
R:
CTGAATGACTCAAAGCTGGAGGT
Band lengths:
242-425
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains