Special

HsaEX6036488 @ hg19

Exon Skipping

Gene
Description
CD46 molecule, complement regulatory protein [Source:HGNC Symbol;Acc:6953]
Coordinates
chr1:207925402-207930987:+
Coord C1 exon
chr1:207925402-207925654
Coord A exon
chr1:207930359-207930547
Coord C2 exon
chr1:207930885-207930987
Length
189 bp
Sequences
Splice sites
3' ss Seq
TCCTATTCTCTTATCCCTAGATG
3' ss Score
10.82
5' ss Seq
ATAGTAAGT
5' ss Score
8.65
Exon sequences
Seq C1 exon
GCTCGGGCCACGCCCACCTGTCCTGCAGCACTGGATGCTTTGTGAGTTGGGGATTGTTGCGTCCCATATCTGGACCCAGAAGGGACTTCCCTGCTCGGCTGGCTCTCGGTTTCTCTGCTTTCCTCCGGAGAAATAACAGCGTCTTCCGCGCCGCGCATGGAGCCTCCCGGCCGCCGCGAGTGTCCCTTTCCTTCCTGGCGCTTTCCTGGGTTGCTTCTGGCGGCCATGGTGTTGCTGCTGTACTCCTTCTCCG
Seq A exon
ATGCCTGTGAGGAGCCACCAACATTTGAAGCTATGGAGCTCATTGGTAAACCAAAACCCTACTATGAGATTGGTGAACGAGTAGATTATAAGTGTAAAAAAGGATACTTCTATATACCTCCTCTTGCCACCCATACTATTTGTGATCGGAATCATACATGGCTACCTGTCTCAGATGACGCCTGTTATA
Seq C2 exon
GAGAAACATGTCCATATATACGGGATCCTTTAAATGGCCAAGCAGTCCCTGCAAATGGGACTTACGAGTTTGGTTATCAGATGCACTTTATTTGTAATGAGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117335-'1-3,'1-2,2-3=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF060117=TRP=PU(4.2=39.4)
A:
PF0008415=Sushi=WD(100=93.8),PF060117=TRP=FE(19.0=100)
C2:
PF0008415=Sushi=PU(52.5=88.6),PF060117=TRP=FE(10.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:


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:
TGAGTTGGGGATTGTTGCGTC
R:
TGGCCATTTAAAGGATCCCGT
Band lengths:
251-440
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains