HsaEX6045687 @ hg38
Exon Skipping
Gene
ENSG00000096696 | DSP
Description
desmoplakin [Source:HGNC Symbol;Acc:HGNC:3052]
Coordinates
chr6:7579818-7586717:+
Coord C1 exon
chr6:7579818-7580240
Coord A exon
chr6:7581449-7581569
Coord C2 exon
chr6:7582642-7586717
Length
121 bp
Sequences
Splice sites
3' ss Seq
GCAACCATCTTGGAACTAAGGAG
3' ss Score
-1.55
5' ss Seq
GAGGTATTC
5' ss Score
6.35
Exon sequences
Seq C1 exon
TATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAG
Seq A exon
GAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAG
Seq C2 exon
GCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000096696-'39-106,'39-105,40-106
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.425 C2=0.109
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF0076914=ERM=WD(100=12.8),PF0068115=Plectin=WD(100=4.2),PF0068115=Plectin=WD(100=4.2),PF0068115=Plectin=WD(100=4.1),PF0068115=Plectin=WD(100=4.2),PF0068115=Plectin=WD(100=4.2),PF0068115=Plectin=WD(100=4.0),PF0068115=Plectin=WD(100=4.2),PF0068115=Plectin=WD(100=4.2)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGTTTCAGGAGGAGGCCAA
R:
CTGTTTCTCACACTCCAGGCG
Band lengths:
250-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains