Special

HsaEX6036484 @ hg19

Exon Skipping

Gene
Description
CD46 molecule, complement regulatory protein [Source:HGNC Symbol;Acc:6953]
Coordinates
chr1:207934594-207940996:+
Coord C1 exon
chr1:207934594-207934791
Coord A exon
chr1:207940358-207940540
Coord C2 exon
chr1:207940952-207940996
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-'5-9,'5-7,7-9=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=0.340
Domain overlap (PFAM):

C1:
PF0008415=Sushi=WD(100=92.5),PF146101=DUF4448=PU(8.6=19.4)
A:
PF0008415=Sushi=WD(100=90.3),PF0200911=Rifin_STEVOR=PU(2.9=3.2)
C2:
PF0248011=Herpes_gE=PU(14.1=81.2),PF151021=TMEM154=FE(14.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
No conservation detected
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