Special

HsaINT0031165 @ hg19

Intron Retention

Gene
Description
CD46 molecule, complement regulatory protein [Source:HGNC Symbol;Acc:6953]
Coordinates
chr1:207934594-207940540:+
Coord C1 exon
chr1:207934594-207934791
Coord A exon
chr1:207934792-207940357
Coord C2 exon
chr1:207940358-207940540
Length
5566 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGTG
5' ss Score
5.56
3' ss Seq
AGGTTTCTCTAATTTTCCAGTGG
3' ss Score
6.59
Exon sequences
Seq C1 exon
AGGTTTTGTGTACACCACCTCCAAAAATAAAAAATGGAAAACACACCTTTAGTGAAGTAGAAGTATTTGAGTATCTTGATGCAGTAACTTATAGTTGTGATCCTGCACCTGGACCAGATCCATTTTCACTTATTGGAGAGAGCACGATTTATTGTGGTGACAATTCAGTGTGGAGTCGTGCTGCTCCAGAGTGTAAAG
Seq A exon
GTAGTGTTTCAATTTATTTCCTTCTTCATTTGTAAATACTATGGAAACATTTTGTAAATAGTTTCATCTACAGATAAACAAAGCAGGTGTATGTGCTTCCTCCTCCTGTATAATTGGTTTCTAATTTATTTTAATTCAGGTCAATTCAAGTCAAAAAATAGTTCTAGCTAGAGTTCCCTATTTCTCACCCCTACATGTTCTTGGCATTTCATTTTATACAGTGTGAACTACTGTGTACCTGCATGAGTTAGAAGTTTTTGTTTGAAAGAACCAAAAAAAAAAAATACACACTGGCTTAAAGAAAGTTTCATCTTGTATTACAAGAAATCTAAGAGTTCTGGCTATGGTAGTGGTAAACTGTGACAGACTAATCGTCTCACAAATAAAAATGATAAACTCTGGATAAAAAAAATTTTTTTTTTAAAGACCAAATGTTTAAGGCACTCTGGAGTGACCAAAAGTATGAAGACCATGTAGGGGACTTGCCCATTTAAAGAAAGAAATCACTGAATAACAGTGATTTAAAAGTATATACTCCCCAAGTACACATGAAACATTCTCCAAAGTAGACCATATTCTAGACAATAAGACAACTTTTAACAAACTTCAGAAAATTGAAATCATTCAACATGCATTATCACAATAGAATGAAAGCAGAAATCAATAACAAAGCCAATCCCCAAAGAATTGGAAAGTGTACAGGACACTTCTAAATAACCCATGCATAAAAGAAGTAGTCAGCAGGGAGATTAGAAAGTGTTTTGAATTGAATAAAAACACAACATCTCAAAATATCCAAATATGTAGGATGCAGCTAAAGCATTGCTTACAGGGGAATGTATAGCATAATATACTTGTGTTAGAAAAAAAGAAAAGTCTCAAATCAATGATCTAATTTTCCACCTTAAGAAACTAAAAAAGAGCAAGTTAAATCCCAAACTAGCAGATGTAAGGAAATGATAAAAATAGAGCCAAAATCAATGAAATTGAGAAAAGAAAAAAAAATAGAGGAAATCAGTGAAACCAACAGTTGCTACTTGGAGATCAATAAAGTGTGTAAACCTGTAGCCAGACTGACAAAAAAAGACGCAAATTAACCAATACTGAGAATGAAAGAAGTGGTGGCCAGGCGCGGCACCCCAGCCAGCTTGAAGACCCTGCCCTCCTGCAGCCGGCAGGGGCAGTCACTCCCGGACTTGTCCTTTTAGAAGTTCCAGCTTTACCACTTGCTGGTGGAGCCCAACCACTGCCGCAGGGTCCTCATCGCCAACACGCCTGGCAGATCCAAGAGGAGATGGCCCAGGATGAGACGTGGCACACACAGGCACCCGAGAGTGTGGGGTTGGCGTTGTTCCACTGCCTGGTTTCTGCAGAGATCCTGTGCCTGTGGCCTGTGCCCGCCATGTGGAAGCCAGAGGGGGTGTGCCATGCCCCCCGCTTTGGACACTGCTGCGTGAAGGGGCCAGTTTTCAGACCTTTGCTCTGTCACCTCAGCACTGGCGCCAGGAGCCCTGAAGAGCAGCATCTGGGAGACGGACAGCCCTGGGGAAAATAGAGGAGGCGTTCAGAAGTAGCTAGATGAGATATTTGAAATACTGAAGACCAAAAACCCCAGTTTGCATGGAAGAACTGGCCTCAGATGTGGTCAGTTCCTATGATGACCTGGACACACGGTGCTGACCCACACGATGGGAGGTGGCCCTGCAAAGCATTCAGAGGCTTGGGCCTGCTGCCGTCCGGCCTCCCACCTCCAGCTGCAATTGCATTCTGACCTGGGCAAGTAGGAACACGTAGTGGAGATCCTGATGGAGACCTGAGCCAGGCGTCCCGGAGTGCTGGCCAGGCGTGGAGTACGGGATCCAGCTAAGGGAGACTGGCCAGCCTATAGCCCCCCAGCCTTGCTGGCTCCTCTGCTAATTCCAGCAGGGTCTGCAGCCCCAGACCCATCCCCTTCCTTCCCGTCTGCAGAGGGCAGGCCAGAGGCTGGTCTCAGTGGGAGCTAGGGCTCTCCTCAAGGGCTTTTTGACCTTGGGCCAGTCTTGACATCCCCACAGCCCTGCGCCCCTCATCACTTTTCGTGTCTCTCGGAGACGGCGAGCTGCAACTGCAGCAATCTTGTTTAAATTTAGGTAGGTGAATTTCTTAGAATTAAGTTTCATATGTTTTGAGCAATAAGTTTTCTTAAGATATATATATTTTAATCTTTTTAGTTTTATCTCTGAATATTTTTTATTTTTTTTCAATGTATTTTTTTTCTGGAAACATTCTGTGCTGCTACATTAGAGCCTACACAGTTTAGTTGGTACATTTCATTCTTTTAAGGTTCAAATAAGGGATTTTATTTTCCAGTGAGTTTCCTTGCATTGTTAACAAGTCAACAGCGTTAACGTATGATTTTTTGGTTTTTTTTTTTTGTATACTTTAAATTTGTGTGCAACCCTTCTCATTTATGCCCTGTGTTACAGTGAGAGCTTGGTCAAAGTGGGGAAAACACACACAGCTGCTACACTTTTTTTTTTTTTTTTTGTCATTGGAACATTTGTGCCATGTCTTCCTAGACTTAAGTGTAAATTATGGAGGGTTTTATTTGACAATTTATATGTAAATGTCATTGAAGGCTAAGGTTAAATCTTTGGAAATCACAGGCACCAGTTGATCTTTAGAGACCTCAGATCCCCTCAGGTGGCGCCTTGTGATAGGCGGTGTTCTGGGAGGCTTCCTGTCAGGTTCCACAGCACAGGCACCTGCTCTGGGCACGGACTGAGCTCCTGGGGTGTGCACGGAGCTGCGGTGCGCCAGTCACATGCGCTTGGAAACAGCGTGTGCTGCTGGATTGGAAATGCCTACGTTGCTCTGTTAAATTGGTGCTGGAGCCAAAACCTAAGGTTAAATTTAAGTCTAGAATGAAAGAAATCTGAATCCATGTAATTAATGGCCGCTCGATCTTGAGAGTCCTTGACGGCCCTGCCTCAGGAAGTGAGGTGGGGGTGCCTACACCTTTCACTTTCCTTCCTCACGTCCACCCCGTATGTGTTTCTCATCCTTTTTCTGACTTCCCCCCATCCCTTAGCCAAAAAGCTTTATATTCTTTTGTGCATATGGTCATTCTTTAATATCAGTGATGTAAACTTTACTTGATTACTTTACAAAATTATTCAACAGACAAACAAAAGAATGAAAAAGAGAATATCACTAAATATCCTACAGACATTTAAAGGATGACAAGGGAATATTATAAACAACTTTATGCCTACAAATTTGACAACTGAAATGGACAGATTCCTTGAAAGATACAAAATGTCAAAACTCACTTGAAGATATGGATAACCTGAATACTCCTATATCTACCAAAGAAATAAAATTTGTAGTTAATAACCTACTGAAGGTCCAGATGGCTTCACTGGGGAGTTCTACCAACCATCTAAGGAATAAATCACAGCAATTCTACACAAGCGTTTCAAGAAAGTGCAAGAGGAGGGAACACTTCTCATCCCATTTTATGATGATAGCATTGTCCTTATACGAAAACCAGAAAACAAAAACATTATAAGAAAATTACAAATAATATCCTTGATGAACACAGGACCAAAAATCTTCAACAAAATATTAGCAAACCAAATCCTGTGATACATAAAAAGAAAAGTAAATCATGACCAAGTAGGATTTACCCTATGAATGCAAGATTAGTTCAAATGCAAAAATTAATCAGTGTAATTTGCCACATCAGTAGACTATTAAGGAGAAAAAAAATCATGTGGTTATCTTATTAGATGCAAAAAACAAAGAAAATGTTTGACAGAATTCATCATCTTATTTTTTCATGATAAAACTTCTCAGCAAACTAGGAACAGAAGGGTACTATCTATCTTACCCTGATAACAGACATCTACAAAAATCTCACAGCTAACATTACACTTCATGGTTCAAAAAAATTATACTTAGTGGTAAAAAGTAACATTGTACTTAGTGGTTAAAAAAACCTTACTTACATTTCTGTCTAATTAATAAAGACCTAATTCTGGAAGGAAAACAGTGAGGATGTCCACTCTTACCACTCCATTCAGCATTATATTGGAGATCCCACCCAGTACAGTAAGGCAAGAGAAAGCTATTAGGCACACATGTTGGAAAAGAAGAAATAAAAACTGTCTCTACTCACAATGAGATGCCACTAAATACCTATTGGAAAGGCCGAAATGTAAACACACACACCCCAAACTGACAATACCAGGTATTGACAAGGATATGGAGCAGATGAAACTCTCATATACTGATGGTGAGAATCAAAGTGCAATGACCACTTTGGGACATTTTTGGCATTTCTTATAAAGTTAAACATACTCTTATCATACAACTCGGCAACCCAAATAAACTGAAAACATTTTCACACAGAAACTTATATGAGGATGTTCACAGCAGCCTTATTCATAATCACCCCAAACTGCAAATCGCCACATGTTCTTGAGTTGGTGAATGAATGAACCACCTGTGCTACCTCTAAAAGATGGACTCGTACTCAGCAATAAAAAGGAATGAACTGATTCATGCAGCAACACAAATGAATTTTGAAAGCATCATGCTTAGTGAAATAAGCCATACTAAGAAGACTGTAATTTCATTTATGTGACATTCTGAAAAAGTCCCACTATAGGGATAAAAGCAGATCAATGGTTAGCTGGTTGTGGAAGTGGGGATGAGGGGGAAGAGGGGTAACTCACAAAAGAGCATGAGGAAATTCTGGAGAGTAATGGAACTTTTCTGTATCTTTACTATGGTGGTAGTTACATGATTATTTGCATTTGTCAAAACTGATACAGCTGTACACTTGAAATGGTGAATTTTACTGTATGTAAATTATATCCAATAAACCAACCTTTACAAATAACATTAGGTACAATTAGACACAACAAAAGGTCAGTGAACCTGAAGACAGGTGAATAGAAATTGAACCTTATTTAAGAAGAAATGTTGACTAAAGAAAGAGAGAGGCTTACAGACCTGTGGGAGAGTATCAAGCAGTGAAACATACATGTAATTGGAGTTTCAGAAAGACAGGAGAGAGAATGGTGTAAAATATTATTTGAAAAAATATTGGCCAAAAATTATCCAAATTAGATCCAAAACAACCTCAGATCCAGGAGATTCAGTGAACCTTCAGCAGGATGAATAAATTATTAAAATTTACCACCACCACCACCCCCCTGCAGTAGTTTGGTAAAAACTACCAAACAAAATTTTAAAAAGCAGCCAGTGAGTGGGGAAAACAACAAAAACCCGTATTACATTTAGGAGGGCAGGGACAAGTAAGAATGACAGCCAGCCAAGTTTTCTTAAGAAAATGTGGTTACAATATGGTTATCTCTGTTAGTGCTGAAAGAAAAATAAAACACCCTAGAATTCTGTATGAAGGAGAATATATTAGTTAACATTTAAAGTCTTTTAAAAAATGTTTTTAACATCTTGCATTCCATTCCTTGTCTCTGTTCACACTGGAAATTACTACTTTGTACTACTTTTTCTGCTAAAGCAGATATCCATTAATTCTGAGGTTTCTCTAATTTTCCAG
Seq C2 exon
TGGTCAAATGTCGATTTCCAGTAGTCGAAAATGGAAAACAGATATCAGGATTTGGAAAAAAATTTTACTACAAAGCAACAGTTATGTTTGAATGCGATAAGGGTTTTTACCTCGATGGCAGCGACACAATTGTCTGTGACAGTAACAGTACTTGGGATCCCCCAGTTCCAAAGTGTCTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000117335-CD46:NM_172361:5
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=92.5),PF146101=DUF4448=PU(8.6=19.4)
A:
NA
C2:
PF0008415=Sushi=WD(100=90.3),PF0200911=Rifin_STEVOR=PU(2.9=3.2)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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