Special

HsaEX6016557 @ hg38

Exon Skipping

Gene
Description
LDL receptor related protein 2 [Source:HGNC Symbol;Acc:HGNC:6694]
Coordinates
chr2:169176411-169207250:-
Coord C1 exon
chr2:169206330-169207250
Coord A exon
chr2:169202756-169202959
Coord C2 exon
chr2:169176411-169176588
Length
204 bp
Sequences
Splice sites
3' ss Seq
CTGGGATTATCTTTCTTCAGGTC
3' ss Score
7.93
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GAAAAAGATCTTCCAAGCCAGCAAGGAACCAGAGAACACAGAGCCACCCACAGTGATAAGAGACAATATCAACTGGCTAAGAGATGTGACCATCTTTGACAAGCAAGTCCAGCCCCGGTCACCAGCAGAGGTCAACAACAACCCTTGCTTGGAAAACAATGGTGGGTGCTCTCATCTCTGCTTTGCTCTGCCTGGATTGCACACCCCAAAATGTGACTGTGCCTTTGGGACCCTGCAAAGTGATGGCAAGAATTGTGCCATTTCAACAGAAAATTTCCTCATCTTTGCCTTGTCTAATTCCTTGAGAAGCTTACACTTGGACCCTGAAAACCATAGCCCACCTTTCCAAACAATAAATGTGGAAAGAACTGTCATGTCTCTAGACTATGACAGTGTAAGTGATAGAATCTACTTCACACAAAATTTAGCCTCTGGAGTTGGACAGATTTCCTATGCCACCCTGTCTTCAGGGATCCATACTCCAACTGTCATTGCTTCAG
Seq A exon
GTCCAAATGGTGCCGAGTGCCAGTGTCCACATGAGGGCAACTGGTATTTGGCCAACAACAGGAAGCACTGCATTGTGGACAATGGTGAACGATGTGGTGCATCTTCCTTCACCTGCTCCAATGGGCGCTGCATCTCGGAAGAGTGGAAGTGTGATAATGACAACGACTGTGGGGATGGCAGTGATGAGATGGAAAGTGTCTGTG
Seq C2 exon
TGAGCAATCCCTGTGGTACCAACAATGGTGGCTGTTCTCATCTCTGCCTCATCAAGCCAGGAGGAAAAGGGTTCACTTGCGAGTGTCCAGATGACTTCCGCACCCTTCAGCTGAGTGGCAGCACCTACTGCATGCCCATGTGCTCCAGCACCCAGTTCCTGTGCGCTAACAATGAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081479_MULTIEX2-4/16=C1-16
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.062 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0005812=Ldl_recept_b=WD(100=13.6),PF146701=FXa_inhibition=WD(100=12.0)
A:
PF146701=FXa_inhibition=PD(60.5=33.3),PF0005713=Ldl_recept_a=WD(100=56.5)
C2:
PF146701=FXa_inhibition=WD(100=66.7),PF0005713=Ldl_recept_a=PU(35.9=23.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGGGACCCTGCAAAGTGATG
R:
TGGTACCACAGGGATTGCTCA
Band lengths:
297-501
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains