Special

HsaEX0003069 @ hg38

Exon Skipping

Gene
Description
advanced glycosylation end-product specific receptor [Source:HGNC Symbol;Acc:HGNC:320]
Coordinates
chr6:32180968-32181632:-
Coord C1 exon
chr6:32181606-32181632
Coord A exon
chr6:32181351-32181477
Coord C2 exon
chr6:32180968-32181239
Length
127 bp
Sequences
Splice sites
3' ss Seq
TTTTCCCTGTCTCCGTACAGGCT
3' ss Score
10.62
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
AACCAGGCGAGGAGGGGCCAACTGCAG
Seq A exon
GCTCTGTGGGAGGATCAGGGCTGGGAACTCTAGCCCTGGCCCTGGGGATCCTGGGAGGCCTGGGGACAGCCGCCCTGCTCATTGGGGTCATCTTGTGGCAAAGGCGGCAACGCCGAGGAGAGGAGAG
Seq C2 exon
GAAGGCCCCAGAAAACCAGGAGGAAGAGGAGGAGCGTGCAGAACTGAATCAGTCGGAGGAACCTGAGGCAGGCGAGAGTAGTACTGGAGGGCCTTGAGGGGCCCACAGACAGATCCCATCCATCAGCTCCCTTTTCTTTTTCCCTTGAACTGTTCTGGCCTCAGACCAACTCTCTCCTGTATAATCTCTCTCCTGTATAACCCCACCTTGCCAAGCTTTCTTCTACAACCAGAGCCCCCCACAATGATGATTAAACACCTGACACATCTTGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204305-'19-21,'19-16,21-21
Average complexity
C1
Mappability confidence:
86%=80=50%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.983 A=0.386 C2=1.000
Domain overlap (PFAM):

C1:
PF066977=DUF1191=FE(8.0=100)
A:
PF066977=DUF1191=FE(37.5=100)
C2:
PF066977=DUF1191=PD(28.2=87.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
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:
GAGGAGGGGCCAACTGCAG
R:
GGGGGCTCTGGTTGTAGAAGA
Band lengths:
258-385
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development