Special

HsaINT0096399 @ hg19

Intron Retention

Gene
Description
low density lipoprotein receptor-related protein 2 [Source:HGNC Symbol;Acc:6694]
Coordinates
chr2:170096037-170097875:-
Coord C1 exon
chr2:170097498-170097875
Coord A exon
chr2:170096286-170097497
Coord C2 exon
chr2:170096037-170096285
Length
1212 bp
Sequences
Splice sites
5' ss Seq
GCAGTAAGT
5' ss Score
9.07
3' ss Seq
ATTCTCTTTCTTTTTTCTAGATG
3' ss Score
11.04
Exon sequences
Seq C1 exon
CAACCAGGCCTCCTGGTATGTGCCACTCAGATGAATTTCAGTGCCAAGAAGATGGTATCTGCATCCCGAACTTCTGGGAATGTGATGGGCATCCAGACTGCCTCTATGGATCTGATGAGCACAATGCCTGTGTCCCCAAGACTTGCCCTTCATCATATTTCCACTGTGACAACGGAAACTGCATCCACAGGGCATGGCTCTGTGATCGGGACAATGACTGCGGGGATATGAGTGATGAGAAGGACTGCCCTACTCAGCCCTTTCGCTGTCCTAGTTGGCAATGGCAGTGTCTTGGCCATAACATCTGTGTGAATCTGAGTGTAGTGTGTGATGGCATCTTTGACTGCCCCAATGGGACAGATGAGTCCCCACTTTGCA
Seq A exon
GTAAGTTTCCTGACCACAGTTTACTGGCCATAAACTCATTCTGAACAGTAGCCTGGTGTGCATCACCATTGTCACAGTCACTGTGTAGCTTTGTAGGAAGGATTTCAGTTCCTCTATGAGTTCACATCTGTGTAGGGGGTAACCATAATTGAATTCAAATACATCACCATTGGATAATTTTCTGATTAAATCCTTTGTACTTGGTTATGTGTTTTTACTTCTTTTTATGTCTTTGTTTCAAAAAATGAGACTAAATTGAGGCCATTAGATTGTCAAATTAAATTTGGTTCTGTTGGTAATGTGCTCATTAATTTTTCTAACTTTAATATTTTCTAATTTCAATCAGAACTTATCACAAAAAAATGAAGTCCAGGGATTTGTGTTGCTGTGATTAAAGTGCTGTGATTGGCATGTAATCCTAATTACTGTCATTTCTTTCTTTCCTCTTTAATCAATGCTCACTCTCAGATGAACCCCAGCCAGGTATGATTGTGAAGTATTTCAGATTCTTATGATTTCATATGTGTTGTGTTTGTTCTGAAAATGTCCTGATTATATTAACTTACTTCCCTTTCTAACGCATGTTCTGTGTTATGACTCTTACAAATATGTTAGAGTACACATGGAAATAGAAGGCATTTGCATCCCCAGGCATGTGAACTGTCTTAGGGTGGCTTTAGGCATTTTCATTTTGGCCCTGAAAGTAAGGCATGACGATATGTTACCGGATCTGTGTACTCTAATATTTCAATGACCTTTCCCCTTTGATTTGTTCACTTCATAGATTTTCTGGTCTTTTCTCTTAAATGTTTGTCTATCTTCCATTTCTGTATAGATAGTAGAATTTCAGAGGAAGAAAACGAGAAACAATTTTAAGTGTCTTTGCATGCTCTATCAATGACACTTTTCTTCCTTGATGTCAACAATATTTTCCCAAGGGTTCTCATTGCATTAAATGGAGTTATACTATTGGGTTGTAGTGAAGAAGGTGATCATACTCCAATGGATATGAAGGATGGTAAATCCTCAGACAAATTAGAGCAAACCCTGAACAGCCTGTGGAACTCACCCAAGTGCATGCTGCACTTAGCTCTTGTCTGGGCATCATATTGAAGGTGGCATGAGACTGCATAATAAATATTGCATAAGAGTGAATCAAAGAAGCAAAGATTCTTGATTTTCTTTTTTCATTATTCTCTTTCTTTTTTCTAG
Seq C2 exon
ATGGGAACAGCTGCTCAGATTTCAATGGTGGTTGTACTCACGAGTGTGTTCAAGAGCCCTTTGGGGCTAAATGCCTATGTCCATTGGGATTCTTACTTGCCAATGATTCTAAGACCTGTGAAGACATAGATGAATGTGATATTCTAGGCTCTTGTAGCCAGCACTGTTACAATATGAGAGGTTCTTTCCGGTGCTCGTGTGATACAGGCTACATGTTAGAAAGTGATGGGAGGACTTGCAAAGTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479-LRP2:NM_004525:25
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:
PF0005713=Ldl_recept_a=WD(100=30.7),PF0005713=Ldl_recept_a=WD(100=29.1),PF0005713=Ldl_recept_a=PU(88.6=30.7)
A:
NA
C2:
PF0005713=Ldl_recept_a=PD(9.1=4.8),PF146701=FXa_inhibition=WD(100=42.9),PF146701=FXa_inhibition=WD(100=40.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAGGACTGCCCTACTCAGC
R:
GTATCACACGAGCACCGGAAA
Band lengths:
346-1558
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