Special

HsaINT0031162 @ hg19

Intron Retention

Gene
Description
CD46 molecule, complement regulatory protein [Source:HGNC Symbol;Acc:6953]
Coordinates
chr1:207930359-207930987:+
Coord C1 exon
chr1:207930359-207930547
Coord A exon
chr1:207930548-207930884
Coord C2 exon
chr1:207930885-207930987
Length
337 bp
Sequences
Splice sites
5' ss Seq
ATAGTAAGT
5' ss Score
8.65
3' ss Seq
TCAAAATTATTTTCTTTCAGGAG
3' ss Score
8.5
Exon sequences
Seq C1 exon
ATGCCTGTGAGGAGCCACCAACATTTGAAGCTATGGAGCTCATTGGTAAACCAAAACCCTACTATGAGATTGGTGAACGAGTAGATTATAAGTGTAAAAAAGGATACTTCTATATACCTCCTCTTGCCACCCATACTATTTGTGATCGGAATCATACATGGCTACCTGTCTCAGATGACGCCTGTTATA
Seq A exon
GTAAGTAAACAAACCTCTTTTTTTTTTCTGCTTGCTCTAGAGATTTGCATACATTTTGGGGTACATATTCCACTACGGTGATGATGATTTTCTTCTTGTAAAATGAGGTTCAAGATAACAATGCATTTTTGCAAGCTTTGAGAAATCAAAATCTCCAAGAAATCATTTTCCTGGCAATAGATTGCCTGGGTGAATATGAATCTTAAGTTTGCCCTTATAATAAGTAAATAATGAAAATTATATTCCCACCCATTCAAAAGAGCACTGCAGAATTTTGATTTTGATTCAGATCTGTTTTATAACTGGATTGAAAACTATCAAAATTATTTTCTTTCAG
Seq C2 exon
GAGAAACATGTCCATATATACGGGATCCTTTAAATGGCCAAGCAGTCCCTGCAAATGGGACTTACGAGTTTGGTTATCAGATGCACTTTATTTGTAATGAGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117335-CD46:NM_172361:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

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


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGTGAGGAGCCACCAACATT
R:
CCCTCATTACAAATAAAGTGCATCTG
Band lengths:
288-625
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development