Special

HsaINT0096555 @ hg19

Intron Retention

Gene
Description
low density lipoprotein receptor-related protein 6 [Source:HGNC Symbol;Acc:6698]
Coordinates
chr12:12317207-12318229:-
Coord C1 exon
chr12:12318013-12318229
Coord A exon
chr12:12317497-12318012
Coord C2 exon
chr12:12317207-12317496
Length
516 bp
Sequences
Splice sites
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
3' ss Seq
TTTTATAATTAATCTTTTAGGTT
3' ss Score
9.73
Exon sequences
Seq C1 exon
GTTATGAATACTGATGGCACTGGGAGACGAGTACTAGTGGAAGACAAAATTCCTCACATATTTGGATTTACTTTGTTGGGTGACTATGTTTACTGGACTGACTGGCAGAGGCGTAGCATTGAAAGAGTTCATAAACGAAGTGCAGAGAGGGAAGTGATCATAGATCAGCTGCCTGACCTCATGGGCCTAAAGGCTACAAATGTTCATCGAGTGATTG
Seq A exon
GTGAGTAACTCCAAAGCTTTCTTAGAAATGGGAACCAGGAATGAAAAAAGATGGAGATAGTCAGCAGTGTAAATTATTGATGTTTTGAGGCAATTTTGAAACCTTCTTTACTGCCCCCCCGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTACTGAGAAGGGACCTTTTAAACGTTGACTTACTACTCTAGCTACCCAGTTTGAATTGAAGGGCTGAATACACATGCACAGGCACACCTTCATCAAAAGAATTCAGTCTGATAGTATGAATAATATACCTTACTTTAAAGCTTACTGTGGTATTAAAGGAAAATACTTCACCATGCTTTTACTCCCTATTAATCTGCATATTACTTGTTTGTGATATTAGAATTGAAACTTGAGATTGGGAGCAAGACATAATCATAGGCATTTGTGAACCAAACGCTTAAGTAATTTAAAAGTGAAAATATGTTGAATGTATCAATGTGTGTGTCCTTCTGTGCCCCTTTTATAATTAATCTTTTAG
Seq C2 exon
GTTCCAACCCCTGTGCTGAGGAAAACGGGGGATGTAGCCATCTCTGCCTCTATAGACCTCAGGGCCTTCGCTGTGCTTGCCCTATTGGCTTTGAACTCATCAGTGACATGAAGACCTGCATTGTCCCAGAGGCTTTCCTTTTGTTTTCACGGAGAGCAGATATCAGACGAATTTCTCTGGAAACAAACAATAATAATGTGGCTATTCCACTCACTGGTGTCAAAGAAGCTTCTGCTTTGGATTTTGATGTGACAGACAACCGAATTTATTGGACTGATATATCACTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000070018-LRP6:NM_002336:8
Average complexity
IR-C
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:
PF0005812=Ldl_recept_b=PD(61.5=32.9)
A:
NA
C2:
PF146701=FXa_inhibition=WD(100=37.1),PF0005812=Ldl_recept_b=PU(24.4=10.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACTGATGGCACTGGGAGACG
R:
AAAGCCTCTGGGACAATGCAG
Band lengths:
345-861
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