Special

HsaEX6045687 @ hg19

Exon Skipping

Gene
Description
desmoplakin [Source:HGNC Symbol;Acc:3052]
Coordinates
chr6:7578697-7586950:+
Coord C1 exon
chr6:7578697-7578795
Coord A exon
chr6:7579508-7581802
Coord C2 exon
chr6:7582875-7586950
Length
2295 bp
Sequences
Splice sites
3' ss Seq
TCTCTGATTTCATTCCACAGCTG
3' ss Score
9.97
5' ss Seq
GAGGTATTC
5' ss Score
6.35
Exon sequences
Seq C1 exon
GCTGCAGATGTTCATGCTCGGTACATTGAACTACTTACAAGATCTGGAGACTATTACAGGTTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAG
Seq A exon
CTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAG
Seq C2 exon
GCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000096696-'22-23,'22-22,24-23=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.404 C2=0.109
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0076914=ERM=WD(100=12.8),PF0068115=Plectin=WD(100=4.2),PF0068115=Plectin=WD(100=2.8),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)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
(DSP)
Chicken
(galGal3)
HIGH PSI
(DSP)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains