Special

HsaINT0031164 @ hg19

Intron Retention

Gene
Description
CD46 molecule, complement regulatory protein [Source:HGNC Symbol;Acc:6953]
Coordinates
chr1:207932984-207934791:+
Coord C1 exon
chr1:207932984-207933069
Coord A exon
chr1:207933070-207934593
Coord C2 exon
chr1:207934594-207934791
Length
1524 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
3' ss Seq
TCTTTTTCTTCATTTTTAAGAGG
3' ss Score
7.79
Exon sequences
Seq C1 exon
TTATTACTTAATTGGTGAAGAAATTCTATATTGTGAACTTAAAGGATCAGTAGCAATTTGGAGCGGTAAGCCCCCAATATGTGAAA
Seq A exon
GTAAGTAAATTCTTTTTTTTTAAATTTAGACCAGTAGTCCTCAAAGATTTTTGCCTCCTTTACACCCTTTACACTTTAAGATTAACAAAGATCCCAAAGAGGTTTCTTTTATGTGGGTTATATCTATTGGTATTTATCATATTGGAATTCAAACGGAGAGGTTTTTAAATAATTATTGATTCTTTTTGGTTTTGTTTGTTTTTCCTAAGACACGGTCTCAGGCTATTTCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCATTGCAGCCTCAGCCTCTCCAGTAGCTGGGGCTTCAGGCATGTGCCACTATGCCTGGCTTTTTGTAATTTTTGAAGAGACGGGGTTTTGCCATGATGCCCAGGCTGGTCTTGAAATCCCATGCTCAAGCAGTCTGCCCCCGTGGGCCTCCCAAAGTGCTGGGATTACAAATGTGAGCCACCCCACCTGGCCTGATTAATTTGTAAGAATAAATGCAATACAAATTAACATATGTAACATAATTTTTATGAAAAATAATAATTTTCCAAATCAAAATAAAATTAGTGAGAATAGTGGCATTGTTCACATTTTTTGCATATCTCTTCAACATCTGGCTTAAAGCAAGATTGTATTTGGCCTGTTGTGTTATCACACAATATGTAGCCTTTGGAAAAATATCACTATATTCTTATTAGGATCAGAGTGAAAAAAGACAATAATATTTTGGTGGTATTGTGAATCACCAATTTAGAAAATGGATATATTTATAAATTGCAAAGGATTTCTTAACTAGCACCGAGTTAAGCATATTTTCTCATTAATTGTCAGCATTTCTTGTGATGACTAGAACAGAACTTAGCATGGCCTTCCAAATAAATACAGGCGTATTAGGCCGTTTTCGTATTGCTCTAAAGAAATACCTGAGACTGGGTAATTTATAAAGAAAAGAAGTTTAATTGGCTCATGTTTCTACAAGCTGTACAGGAAGCATGGTGCTGGCATCTGCTGGGGGTTTGGGTAGGCCTCGGGAAACTTAACAACCATTGGGAAAGACAGAAGGAGAGCAAGGTGTCTCACATGGCAGGAGCAGGAGGAGCAAGGTGGGGAGGACGGGAGGTGTTGCGCACTTTTAAATAACCAGATCTCCCAAGCACTCAGTATCACGAGAACAGCACCAAGGGGACGGTGCTAAACCATTCATGAGAAATCCACCCCCATGATTCAGACCCCTCCCACCAGGCCCCACCTCCAACATTGTGGACTACAATTTGACATGCGATTTGGTGGGGACACAGATCCAAACCATATCAATAGGTATTTACACTTTAAGAAAATGAGATTTGTTCTGAAAGTTAGTTACTACATTAATGGTTTGAATTTGGGATGATATATTTGCTCATAGAAACCTTCTTTTAAATCCATATTGAATTCACAAACAGCTTGTAGAAACCCTATATTGACAAATTTATTGAAGACACAGAAATTTTACTAATGCTGTCTTAATCTTTTACATTTCCTTTCCTCTTTTTCTTCATTTTTAAG
Seq C2 exon
AGGTTTTGTGTACACCACCTCCAAAAATAAAAAATGGAAAACACACCTTTAGTGAAGTAGAAGTATTTGAGTATCTTGATGCAGTAACTTATAGTTGTGATCCTGCACCTGGACCAGATCCATTTTCACTTATTGGAGAGAGCACGATTTATTGTGGTGACAATTCAGTGTGGAGTCGTGCTGCTCCAGAGTGTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117335-CD46:NM_172361:4
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=PD(45.8=90.0),PF060117=TRP=FE(8.8=100)
A:
NA
C2:
PF0008415=Sushi=WD(100=92.5),PF146101=DUF4448=PU(8.6=19.4)


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:
ATTGTGAACTTAAAGGATCAGTAGCA
R:
TTTACACTCTGGAGCAGCACG
Band lengths:
254-1778
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